251:). Five homozygous and eight heterozygous pathogenic HESX1 mutations have been discovered. Patients with homozygous mutations present with a typical SOD phenotype while those with heterozygous mutations are mildly affected. In addition to HESX1, mutations in OTX2, SOX2 and PAX6 have been implicated in SOD. SOX2 mutations in SOD patients are associated with severe bilateral ocular anomalies such as
39:
333:
described an association between underdevelopment of the optic nerve with an absent septum pellucidum. Fifteen years later French doctor
Georges de Morsier reported his theory that the two abnormalities were connected and coined the term septo-optic dysplasia. In 1970 American doctor William Hoyt
380:
de
Morsier G (1956). "Études sur les dysraphies, crânioencéphaliques. III. Agénésie du septum palludicum avec malformation du tractus optique. La dysplasie septo-optique" [Studies on dysraphias, cranioencephalic. III. Agenesis of the septum palludicum with malformation of the optic tract.
283:
A diagnosis of SOD is made when at least two of the following triad are present: optic nerve underdevelopment; pituitary hormone abnormalities; and mid-line brain abnormalities. Diagnosis is usually made at birth or during childhood, and a clinical diagnosis can be confirmed by
234:
SOD results from an abnormality in the development of the embryonic forebrain at 4–6 weeks of pregnancy. There is no known single cause of SOD, but it is thought that both genetic and environmental factors may be involved.
937:
861:
846:
320:
A European survey put the prevalence of SOD at somewhere in the region of 1.9 to 2.5 per 100,000 live births, with the United
Kingdom having a particularly high rate and with increased risk for younger mothers.
668:
Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, MĂĄrtensson IL, et al. (June 1998). "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse".
139:
are more common in children with bilateral optic nerve hypoplasia than those with unilateral optic nerve hypoplasia. Bilateral optic nerve hypoplasia is also associated with a more severe disease course.
1223:
127:
The symptoms of SOD can be divided into those related to optic nerve underdevelopment, pituitary hormone abnormalities, and mid-line brain abnormalities. Symptoms may vary greatly in their severity.
930:
195:
may fail to develop normally, leading to neurological problems such as seizures or developmental delay. Patients with seizures are more likely to show additional neurological abnormalities such as
923:
226:
occurs in 57%, and behavioral problems occur in 20%, but further research has indicated that these symptoms may be less common and caused by additional neurological abnormalities.
1216:
1209:
2136:
111:(a midline part of the brain). Two or more of these features need to be present for a clinical diagnosis—only 30% of patients have all three. French-Swiss doctor
2228:
497:
2028:
809:
135:
About one quarter of people with SOD have significant visual impairment in one or both eyes, as a result of optic nerve underdevelopment.
1201:
1632:
1462:
1391:
1333:
1823:
1323:
1122:
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There is no cure for SOD. Treatment aims to manage symptoms and may require a multidisciplinary team of specialists including
1355:
2114:
1795:
1704:
1426:
1407:
1328:
1781:
876:
1340:
448:
330:
210:
Neurological symptoms are typically considered late onset manifestations of SOD. Common initial presentations include
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first recognized the relation of a rudimentary or absent septum pellucidum with hypoplasia of the optic nerves and
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1318:
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403:
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2140:
2128:
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2009:
1865:
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1557:
1421:
1031:
431:
Gleason, CA; Devascar, S (5 October 2011). "Congenital malformations of the
Central Nervous System".
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1961:
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714:"Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study"
260:
1723:
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214:, development delays and limb weakness. Intellectual abilities vary widely from normal to severe
2132:
1998:
1956:
1904:
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made the connection between the three features of SOD and named the syndrome after de
Morsier.
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2004:
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1604:
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1370:
432:
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2144:
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1982:
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Garne E, Rissmann A, Addor MC, Barisic I, Bergman J, Braz P, et al. (September 2018).
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this can usually be detected within the first three months of life. It may be followed by
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870:
586:"Neuro-Ophthalmological Manifestations Of Septo-Optic Dysplasia: Current Perspectives"
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810:"Katie Price's dilemma over what's best for disabled son will be familiar to many"
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207:. Such abnormalities are always identified when spastic quadriplegia is present.
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275:. Genetic abnormalities are identified in fewer than one percent of patients.
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147:(involuntary eye movements, often side-to-side). In cases of bilateral
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Rare familial recurrence has been reported, suggesting at least one
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1992:
1987:
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1543:
1523:
1360:
850:
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Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL (2015-10-25).
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2017:
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259:. Additional features associated with SOX2 mutations include
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that features a combination of the underdevelopment of the
38:
711:
584:
Ganau M, Huet S, Syrmos N, Meloni M, Jayamohan J (2019).
430:
583:
828:
761:"Reappraisal of the optic nerve hypoplasia syndrome"
46:
The optic nerve is underdeveloped in this condition.
408:
Genetic and Rare
Diseases Information Center (GARD)
2137:Ectrodactyly–ectodermal dysplasia–cleft syndrome 3
312:but vision impairments are not usually treatable.
158:
2220:
457:
383:Schweizer Archiv fĂĽr Neurologie und Psychiatrie
182:
130:
187:In SOD, mid-line brain structures such as the
2029:Yemenite deaf-blind hypopigmentation syndrome
1217:
931:
308:. Hormone deficiencies may be treated with
527:
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1210:
938:
924:
661:
496:: CS1 maint: location missing publisher (
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342:British model and television personality
1633:Posterior polymorphous corneal dystrophy
1463:Autoimmune polyendocrine syndrome type 1
758:
579:
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575:
466:Bradley's neurology in clinical practice
1824:Anterior segment mesenchymal dysgenesis
1123:Bilateral frontoparietal polymicrogyria
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2229:Congenital disorders of nervous system
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1356:X-linked adrenal hypoplasia congenita
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633:
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572:
337:
122:
1408:Greig cephalopolysyndactyly syndrome
718:European Journal of Medical Genetics
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346:'s son, Harvey, has this condition.
1782:Iridogoniodysgenesis, dominant type
649:. U.S. National Library of Medicine
504:
13:
2066:
949:malformations and deformations of
628:
534:European Journal of Human Genetics
528:Webb EA, Dattani MT (April 2010).
14:
2255:
824:
1796:Lymphedema–distichiasis syndrome
1392:Tricho–rhino–phalangeal syndrome
1366:Familial partial lipodystrophy 3
439:(9 ed.). Saunders. p.
404:"Septo-Optic Dysplasia Spectrum"
329:In 1941 Dr. David Reeves at the
107:dysfunction, and absence of the
2060:(0) Other transcription factors
1351:Estrogen insensitivity syndrome
1319:Androgen insensitivity syndrome
1075:Agenesis of the corpus callosum
801:
752:
705:
435:Avery's Diseases of the Newborn
331:Children's Hospital Los Angeles
315:
171:, most commonly in the form of
159:Pituitary hormone abnormalities
1941:Hyperimmunoglobulin E syndrome
1346:PHA1AD pseudohypoaldosteronism
765:Journal of Neuro-Ophthalmology
373:
356:
155:developing in the first year.
1:
2203:Atrichia with papular lesions
381:Septo-optic dysplasia.].
349:
1910:Popliteal pterygium syndrome
1852:Enlarged vestibular aqueduct
1691:Waardenburg syndrome 1&3
1476:(3) Helix-turn-helix domains
1235:relating to deficiencies of
778:10.1097/WNO.0b013e31824442b8
468:(Seventh ed.). London.
291:
278:
183:Mid-line brain abnormalities
131:Optic nerve underdevelopment
7:
2010:Premature ovarian failure 7
1866:Premature ovarian failure 3
1738:Congenital hypothyroidism 2
1041:other reduction deformities
808:Singh A (25 January 2021).
10:
2260:
2157:Transcription coregulators
1927:with minor groove contacts
1314:Thyroid hormone resistance
730:10.1016/j.ejmg.2018.05.010
324:
273:sensorineural hearing loss
238:
218:. Early studies indicated
67:congenital hypopituitarism
2189:
2179:Rubinstein–Taybi syndrome
2164:
2155:
2086:
2059:
2039:
2005:SRY XY gonadal dysgenesis
1975:
1949:
1933:
1924:
1890:
1810:Bamforth–Lazarus syndrome
1762:
1662:
1482:
1475:
1455:
1422:Duane-radial ray syndrome
1400:
1379:
1371:SF1 XY gonadal dysgenesis
1301:
1292:
1272:
1251:
1244:
1169:
1146:
1137:
1014:
966:
957:
832:
759:Borchert M (March 2012).
229:
173:growth hormone deficiency
60:
50:
45:
36:
26:
21:
2047:Cleidocranial dysostosis
1264:Saethre–Chotzen syndrome
1027:Congenital hydrocephalus
222:occurs in 71% of cases,
163:Underdevelopment of the
2024:Waardenburg syndrome 4c
1724:Coloboma of optic nerve
1572:Tooth and nail syndrome
1412:Pallister–Hall syndrome
647:Genetics Home Reference
643:"Septo-Optic Dysplasia"
530:"Septo-optic dysplasia"
220:intellectual disability
216:intellectual disability
1967:Ulnar–mammary syndrome
1925:(4) β-Scaffold factors
1905:Van der Woude syndrome
1437:Townes–Brocks syndrome
1310:Intracellular receptor
149:optic nerve hypoplasia
2141:Limb–mammary syndrome
2129:Rapp–Hodgkin syndrome
2101:Pitt–Hopkins syndrome
1677:Papillorenal syndrome
1652:Mowat–Wilson syndrome
1558:Nail–patella syndrome
1442:Acrocallosal syndrome
1080:Septo-optic dysplasia
1032:Dandy–Walker syndrome
547:10.1038/ejhg.2009.125
79:Septo-optic dysplasia
22:Septo-optic dysplasia
1983:Campomelic dysplasia
1962:Li–Fraumeni syndrome
1447:Myotonic dystrophy 2
1417:Denys–Drash syndrome
1237:transcription factor
137:Developmental delays
1777:Axenfeld syndrome 3
1591:Axenfeld syndrome 1
1530:SPD1 synpolydactyly
1295:DNA-binding domains
1006:Chiari malformation
265:oesophageal atresia
261:developmental delay
87:de Morsier syndrome
31:de Morsier syndrome
2133:Hay–Wells syndrome
1957:Holt–Oram syndrome
1719:Gillespie syndrome
1638:Fuchs' dystrophy 3
1516:Currarino syndrome
1177:Currarino syndrome
1148:Neural tube defect
1090:Hemimegalencephaly
1056:Microlissencephaly
968:Neural tube defect
603:10.2147/EB.S186307
389:. Zurich: 267–292.
338:In popular culture
197:cortical dysplasia
177:panhypopituitarism
175:. In severe cases
123:Signs and symptoms
113:Georges de Morsier
2216:
2215:
2212:
2211:
2082:
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1497:Ohtahara syndrome
1471:
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1341:Kennedy's disease
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1259:Feingold syndrome
1245:(1) Basic domains
1233:Genetic disorders
1199:
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1194:
1133:
1132:
1046:Holoprosencephaly
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193:septum pellucidum
109:septum pellucidum
85:), known also as
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71:holoprosencephaly
62:Diagnostic method
16:Medical condition
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1502:Lissencephaly X2
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1387:Barakat syndrome
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1182:Diastomatomyelia
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167:in SOD leads to
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1293:(2) Zinc finger
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1066:Hydranencephaly
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671:Nature Genetics
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833:Classification
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724:(9): 483–488.
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201:polymicrogyria
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1952:
1948:
1942:
1939:
1938:
1936:
1932:
1929:
1923:
1911:
1908:
1906:
1903:
1902:
1901:
1900:
1896:
1895:
1893:
1889:
1881:
1878:
1877:
1876:
1875:
1871:
1867:
1864:
1863:
1862:
1861:
1857:
1853:
1850:
1849:
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1847:
1843:
1839:
1836:
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1829:
1825:
1822:
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1819:
1815:
1811:
1808:
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1805:
1801:
1797:
1794:
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1791:
1787:
1783:
1780:
1778:
1775:
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1773:
1772:
1768:
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1765:
1761:
1753:
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1600:
1596:
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1582:
1578:
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1573:
1570:
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1563:
1559:
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1549:
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1539:
1535:
1531:
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1521:
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1507:
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1399:
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1378:
1372:
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1364:
1362:
1359:
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1344:
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1339:
1335:
1332:
1330:
1327:
1325:
1322:
1321:
1320:
1317:
1315:
1311:
1307:
1306:
1304:
1300:
1297:
1291:
1281:
1278:
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1275:
1271:
1265:
1262:
1260:
1257:
1256:
1254:
1250:
1247:
1243:
1238:
1234:
1227:
1222:
1220:
1215:
1213:
1208:
1207:
1204:
1188:
1187:Syringomyelia
1185:
1183:
1180:
1178:
1175:
1174:
1172:
1168:
1162:
1159:
1157:
1154:
1153:
1151:
1149:
1145:
1142:
1140:
1136:
1124:
1121:
1120:
1119:
1116:
1115:
1110:
1107:
1105:
1102:
1101:
1100:
1099:
1095:
1094:
1091:
1088:
1086:
1083:
1081:
1078:
1076:
1073:
1072:
1067:
1064:
1062:
1059:
1057:
1054:
1052:
1051:Lissencephaly
1049:
1047:
1044:
1043:
1042:
1039:
1038:
1033:
1030:
1029:
1028:
1025:
1023:
1020:
1019:
1017:
1013:
1007:
1004:
1002:
1001:Encephalocele
999:
995:
992:
990:
987:
985:
982:
979:
978:
977:
974:
973:
971:
969:
965:
962:
960:
956:
952:
948:
941:
936:
934:
929:
927:
922:
921:
918:
905:
901:
900:
896:
894:
890:
889:
885:
883:
879:
878:
874:
872:
868:
867:
863:
859:
857:
853:
852:
848:
844:
843:
840:
835:
831:
815:
814:The Telegraph
811:
804:
796:
792:
788:
784:
779:
774:
770:
766:
762:
755:
747:
743:
739:
735:
731:
727:
723:
719:
715:
708:
700:
696:
692:
688:
684:
680:
677:(2): 125–33.
676:
672:
664:
648:
644:
638:
636:
634:
632:
623:
619:
614:
609:
604:
599:
596:(11): 37–47.
595:
591:
590:Eye and Brain
587:
580:
578:
576:
567:
563:
558:
553:
548:
543:
539:
535:
531:
524:
522:
520:
518:
516:
514:
512:
510:
508:
499:
493:
485:
481:
477:
475:9780323339162
471:
467:
460:
452:
446:
442:
437:
436:
427:
425:
409:
405:
399:
397:
388:
385:(in French).
384:
376:
370:
369:Who Named It?
366:
365:
359:
355:
347:
345:
335:
332:
322:
313:
311:
307:
303:
299:
289:
287:
276:
274:
270:
269:short stature
266:
262:
258:
254:
250:
246:
236:
227:
225:
221:
217:
213:
208:
206:
202:
198:
194:
190:
180:
178:
174:
170:
166:
156:
154:
150:
146:
143:There may be
141:
138:
128:
120:
118:
114:
110:
106:
102:
98:
95:
92:
88:
84:
80:
72:
68:
65:
63:
59:
56:Ophthalmology
55:
53:
49:
44:
40:
35:
32:
29:
25:
20:
2234:Eye diseases
2196:
2190:Corepressor:
2171:
2165:Coactivator:
2121:
2107:
2093:
2016:
1997:
1897:
1872:
1858:
1844:
1830:
1816:
1802:
1788:
1769:
1744:
1730:
1711:
1697:
1683:
1669:
1644:
1625:
1611:
1597:
1583:
1564:
1550:
1536:
1522:
1508:
1489:
1161:Rachischisis
1156:Spina bifida
1104:Porencephaly
1096:
1079:
1040:
1022:Microcephaly
994:Iniencephaly
897:
886:
875:
860:
845:
813:
803:
771:(1): 58–67.
768:
764:
754:
721:
717:
707:
674:
670:
663:
651:. Retrieved
646:
593:
589:
540:(4): 393–7.
537:
533:
465:
459:
434:
411:. Retrieved
407:
386:
382:
375:
362:
358:
341:
328:
319:
316:Epidemiology
298:neurologists
295:
282:
257:anophthalmia
242:
233:
209:
186:
162:
142:
134:
126:
94:malformation
89:, is a rare
86:
82:
78:
77:
30:
1139:Spinal cord
976:Anencephaly
683:10.1038/477
344:Katie Price
179:may occur.
101:optic nerve
27:Other names
2223:Categories
1061:Pachygyria
947:Congenital
899:DiseasesDB
350:References
153:strabismus
91:congenital
2244:Syndromes
2087:Ungrouped
989:Acalvaria
492:cite book
484:932031625
364:synd/2548
292:Treatment
279:Diagnosis
145:nystagmus
119:in 1956.
52:Specialty
1098:CNS cyst
980:Acephaly
795:12131899
787:22330852
746:21673637
738:29753093
699:28880292
622:31695544
566:19623216
413:5 August
212:epilepsy
191:and the
97:syndrome
1838:ACD/MPV
984:Acrania
893:D025962
691:9620767
653:16 July
613:6805786
557:2987262
325:History
288:scans.
245:genetic
239:Genetic
2239:Vision
2173:CREBBP
1993:MODY 5
1988:MODY 3
1752:STHAG3
1705:MODY 9
1613:POU3F4
1605:DFNA15
1599:POU4F3
1544:MODY 4
1524:HOXD13
1432:MRX 89
1427:MODY 7
1361:MODY 1
882:182230
793:
785:
744:
736:
697:
689:
620:
610:
564:
554:
482:
472:
447:
247:form (
230:Causes
117:chiasm
2115:TNDM1
2109:ZFP57
2018:SOX10
1874:FOXP3
1860:FOXL2
1846:FOXI1
1832:FOXF1
1818:FOXE3
1804:FOXE1
1790:FOXC2
1771:FOXC1
1619:DFNX2
1585:PITX2
1552:LMX1B
1170:Other
1015:Other
959:Brain
904:32732
871:742.2
856:Q04.4
791:S2CID
742:S2CID
695:S2CID
304:and
249:HESX1
2145:OFC8
2123:TP63
2095:TCF4
2040:4.11
1899:IRF6
1880:IPEX
1746:PAX9
1732:PAX8
1713:PAX6
1699:PAX4
1685:PAX3
1671:PAX2
1646:ZEB2
1627:ZEB1
1577:OFC5
1566:MSX1
1538:PDX1
1510:MNX1
1334:CAIS
1329:MAIS
1324:PAIS
888:MeSH
877:OMIM
866:9-CM
783:PMID
734:PMID
687:PMID
655:2015
618:PMID
562:PMID
498:link
480:OCLC
470:ISBN
445:ISBN
415:2021
271:and
255:and
203:and
2067:0.6
1999:SF1
1976:4.7
1950:4.3
1934:4.2
1891:3.5
1763:3.3
1663:3.2
1491:ARX
1483:3.1
1456:2.5
1401:2.3
1380:2.2
1312:):
1302:2.1
1273:1.3
1252:1.2
862:ICD
847:ICD
773:doi
726:doi
679:doi
608:PMC
598:doi
552:PMC
542:doi
441:857
367:at
310:HRT
286:MRI
83:SOD
2225::
2198:HR
902::
891::
880::
869::
854::
851:10
812:.
789:.
781:.
769:32
767:.
763:.
740:.
732:.
722:61
720:.
716:.
693:.
685:.
675:19
673:.
645:.
630:^
616:.
606:.
594:11
592:.
588:.
574:^
560:.
550:.
538:18
536:.
532:.
506:^
494:}}
490:{{
478:.
443:.
423:^
406:.
395:^
387:77
300:,
267:,
263:,
199:,
103:,
69:,
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2201:(
2143:/
2139:/
2135:/
2131:/
1410:/
1308:(
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1218:t
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939:e
932:t
925:v
864:-
849:-
839:D
816:.
797:.
775::
748:.
728::
701:.
681::
657:.
624:.
600::
568:.
544::
500:)
486:.
453:.
417:.
81:(
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
