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then the digit can stay. Some people may have intellectual disability, though this condition usually causes only mild impairment. Developmental assistance and early specialist intervention should be offered in the case of intellectual disability. People should be tested as an individual and be given proper assistance.
130:
responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of Greig cephalopolysyndactyly syndrome.
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The main treatment is surgery to fix the abnormalities in the limbs, like syndactyly. It is less important to repair the feet surgically, as it can cause complications, and it is not aesthetically important compared to the hands. If there is polydactyly with an extra digit that is fully functional,
165:
gene mutation. It can also be made if the person has a family member or relative with the disease. Possibly, antenatal ultrasound can detect macrocephaly, and a high-resolution ultrasound can detect polydactyly and syndactyly. There are a lot of differential diagnoses, including over 100 syndromes
129:
gene can cause Greig cephalopolysyndactyly syndrome. In some cases, the condition results from a chromosomal abnormality, such as a large deletion or translocation of genetic material, in the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is
160:
The disease is not easily definable. The main form of diagnosis is presumptive, if the person has the usual triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, macrocephaly, and hypertelorism. However, a definitive diagnosis can be made if there is a phenotype that is
115:
gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the
463:
62:
is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe. People with this condition typically have one or more extra fingers or toes
141:, and only one copy of the defective GLI3 gene is sufficient to cause the disorder. In cases of dominant inheritance, an affected person inherits the genetic mutation or chromosomal abnormality from one affected parent.
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The skin between the fingers and toes may be fused (cutaneous syndactyly). This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (
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83:), and a high, prominent forehead. Rarely, affected individuals may have more serious medical problems including seizures and developmental delay.
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The outlook is usually good in the usual case of GCPS. Mostly, the biggest problem associated with the condition in mild intellectual impairment.
1962:
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and disorders that can cause polydactyly. However, there are a few diseases with an overlap that is significant. These diseases include:
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The foot of the patient with Greig cephalopolysyndactyly shows a partially duplicated hallux with cutaneous syndactyly of several digits.
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Rare instances of this disorder are sporadic, and occur in people with no history of the condition in their family.
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26:"GCPS" redirects here. For the Florida school district with the acronym GCPS (Gadsden County Public Schools), see
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Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in the
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protein plays a role in the normal shaping (patterning) of many organs and tissues before birth.
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Patient with Greig cephalopolysyndactyly syndrome showing hypertelorism and macrocephaly.
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Greig cephalopolysyndactyly syndrome has an autosomal dominant pattern of inheritance.
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Finger with syndactyly of many digits caused by Greig cephalopolysyndactyly.
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Disorder that affects development of the limbs, head, and face
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pattern, which means the defective gene is located on an
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gene cause Greig cephalopolysyndactyly syndrome. The
338:
2071:Ectrodactyly–ectodermal dysplasia–cleft syndrome 3
2154:
2163:Congenital disorders of musculoskeletal system
1963:Yemenite deaf-blind hypopigmentation syndrome
1151:
457:
1158:
1144:
464:
450:
244:"The Greig cephalopolysyndactyly syndrome"
67:) or an abnormally wide thumb or big toe (
44:
277:
259:
241:
1567:Posterior polymorphous corneal dystrophy
1397:Autoimmune polyendocrine syndrome type 1
146:
123:Different genetic changes involving the
98:
90:
1758:Anterior segment mesenchymal dysgenesis
2155:
1290:X-linked adrenal hypoplasia congenita
1139:
445:
1342:Greig cephalopolysyndactyly syndrome
985:Greig cephalopolysyndactyly syndrome
419:Greig Cephalopolysyndactyly Syndrome
323:Greig cephalopolysyndactyly syndrome
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60:Greig cephalopolysyndactyly syndrome
39:Greig cephalopolysyndactyly syndrome
1716:Iridogoniodysgenesis, dominant type
242:Biesecker, Leslie G. (2008-04-24).
13:
2000:
475:malformations and deformations of
133:This condition is inherited in an
86:
14:
2199:
2168:Transcription factor deficiencies
315:
248:Orphanet Journal of Rare Diseases
220:
1730:Lymphedema–distichiasis syndrome
1326:Tricho–rhino–phalangeal syndrome
1300:Familial partial lipodystrophy 3
1994:(0) Other transcription factors
1285:Estrogen insensitivity syndrome
1253:Androgen insensitivity syndrome
658:Congenital patellar dislocation
537:Wallis–Zieff–Goldblatt syndrome
74:
1875:Hyperimmunoglobulin E syndrome
1280:PHA1AD pseudohypoaldosteronism
294:
28:Gadsden County School District
21:Gwinnett County Public Schools
1:
2137:Atrichia with papular lesions
213:
181:
2173:Autosomal dominant disorders
1844:Popliteal pterygium syndrome
1786:Enlarged vestibular aqueduct
1625:Waardenburg syndrome 1&3
1410:(3) Helix-turn-helix domains
1169:relating to deficiencies of
190:
155:
7:
2183:Syndromes with macrocephaly
1944:Premature ovarian failure 7
1800:Premature ovarian failure 3
1672:Congenital hypothyroidism 2
944:Oto-palato-digital syndrome
939:Hallermann–Streiff syndrome
663:Congenital knee dislocation
481:musculoskeletal abnormality
203:The condition is named for
10:
2204:
2091:Transcription coregulators
1861:with minor groove contacts
1248:Thyroid hormone resistance
975:Craniodiaphyseal dysplasia
25:
18:
2123:
2113:Rubinstein–Taybi syndrome
2098:
2089:
2020:
1993:
1973:
1939:SRY XY gonadal dysgenesis
1909:
1883:
1867:
1858:
1824:
1744:Bamforth–Lazarus syndrome
1696:
1596:
1416:
1409:
1389:
1356:Duane-radial ray syndrome
1334:
1313:
1305:SF1 XY gonadal dysgenesis
1235:
1226:
1206:
1185:
1178:
1109:
1085:
1061:
1052:
1007:
957:
949:Treacher Collins syndrome
919:
891:
882:
873:
839:
800:reduction deficits / limb
799:
743:
736:
671:
628:
591:
582:
545:
513:
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487:
404:
342:
198:
52:
43:
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1981:Cleidocranial dysostosis
1198:Saethre–Chotzen syndrome
774:Cenani–Lenz syndactylism
527:Cleidocranial dysostosis
373:C537300 C537300, C537300
2178:Syndromes with dysmelia
1958:Waardenburg syndrome 4c
1658:Coloboma of optic nerve
1506:Tooth and nail syndrome
1346:Pallister–Hall syndrome
921:Craniofacial dysostosis
330:Genetics Home Reference
161:caused by a Gcps and a
1901:Ulnar–mammary syndrome
1859:(4) β-Scaffold factors
1839:Van der Woude syndrome
1371:Townes–Brocks syndrome
1244:Intracellular receptor
477:musculoskeletal system
261:10.1186/1750-1172-3-10
152:
104:
96:
2075:Limb–mammary syndrome
2063:Rapp–Hodgkin syndrome
2035:Pitt–Hopkins syndrome
1611:Papillorenal syndrome
1586:Mowat–Wilson syndrome
1492:Nail–patella syndrome
1376:Acrocallosal syndrome
1029:Klippel–Feil syndrome
205:David Middleton Greig
168:acrocallosal syndrome
150:
102:
94:
1917:Campomelic dysplasia
1896:Li–Fraumeni syndrome
1381:Myotonic dystrophy 2
1351:Denys–Drash syndrome
1171:transcription factor
1039:Spina bifida occulta
555:Madelung's deformity
532:Sprengel's deformity
1711:Axenfeld syndrome 3
1525:Axenfeld syndrome 1
1464:SPD1 synpolydactyly
1229:DNA-binding domains
857:RAPADILINO syndrome
2067:Hay–Wells syndrome
1891:Holt–Oram syndrome
1653:Gillespie syndrome
1572:Fuchs' dystrophy 3
1450:Currarino syndrome
719:Rocker bottom foot
405:External resources
172:carpenter syndrome
153:
135:autosomal dominant
105:
97:
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2149:
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2016:
2015:
1989:
1988:
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1853:
1431:Ohtahara syndrome
1405:
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1275:Kennedy's disease
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1193:Feingold syndrome
1179:(1) Basic domains
1167:Genetic disorders
1133:
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1125:
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1054:Thoracic skeleton
1034:Spondylolisthesis
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33:Medical condition
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1436:Lissencephaly X2
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1321:Barakat syndrome
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1137:
1136:
1101:Pectus carinatum
1096:Pectus excavatum
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1017:Spinal curvature
1009:Vertebral column
929:Crouzon syndrome
893:Craniosynostosis
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745:fingers and toes
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653:Discoid meniscus
610:Upington disease
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2012:
2008:Kabuki syndrome
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1227:(2) Zinc finger
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1173:or coregulators
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1117:Poland syndrome
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852:Larsen syndrome
840:multiple joints
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648:Genu recurvatum
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601:Hip dislocation
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176:Gorlin syndrome
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1214:Tietz syndrome
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911:Trigonocephaly
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884:Skull and face
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847:Arthrogryposis
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821:
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769:Arachnodactyly
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749:
747:
738:
734:
733:
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729:
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673:foot deformity
669:
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547:hand deformity
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1702:
1701:
1699:
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1677:
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1663:
1659:
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1577:
1573:
1570:
1568:
1565:
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1558:
1554:
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1526:
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1501:
1497:
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1483:
1479:
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1473:
1469:
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1437:
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1412:
1408:
1398:
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1388:
1382:
1379:
1377:
1374:
1372:
1369:
1367:
1364:
1362:
1359:
1357:
1354:
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1349:
1347:
1343:
1340:
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1337:
1333:
1327:
1324:
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1306:
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1301:
1298:
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1278:
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1273:
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1254:
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1249:
1245:
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1234:
1231:
1225:
1215:
1212:
1211:
1209:
1205:
1199:
1196:
1194:
1191:
1190:
1188:
1184:
1181:
1177:
1172:
1168:
1161:
1156:
1154:
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1118:
1115:
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1108:
1102:
1099:
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1075:
1073:
1070:
1069:
1067:
1064:
1060:
1057:
1055:
1051:
1045:
1044:Sacralization
1042:
1040:
1037:
1035:
1032:
1030:
1027:
1023:
1020:
1019:
1018:
1015:
1014:
1012:
1010:
1006:
996:
993:
991:
990:Plagiocephaly
988:
986:
983:
981:
978:
976:
973:
971:
968:
966:
963:
962:
960:
956:
950:
947:
945:
942:
940:
937:
935:
934:Hypertelorism
932:
930:
927:
926:
924:
922:
918:
912:
909:
907:
904:
902:
901:Scaphocephaly
899:
898:
896:
894:
890:
887:
885:
881:
878:
876:
872:
858:
855:
853:
850:
848:
845:
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838:
830:
827:
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822:
820:
817:
816:
815:
814:
810:
808:
805:
804:
802:
798:
790:
787:
786:
785:
784:Brachydactyly
782:
780:
777:
775:
772:
770:
767:
763:
760:
759:
758:
754:
751:
750:
748:
746:
742:
739:
737:Either / both
735:
725:
722:
720:
717:
715:
712:
708:
705:
704:
703:
702:
698:
694:
691:
689:
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679:
678:
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670:
664:
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656:
654:
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644:
641:
639:
636:
635:
633:
631:
627:
621:
618:
616:
613:
611:
608:
606:
605:Hip dysplasia
602:
599:
598:
596:
594:
590:
587:
585:
581:
571:
568:
566:
563:
561:
558:
556:
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550:
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544:
538:
535:
533:
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520:
516:
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482:
478:
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467:
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455:
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448:
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431:
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410:
407:
403:
396:
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365:
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359:
358:
354:
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350:
345:
341:
335:
332:
329:
325:
324:
320:
319:
308:
307:Who Named It?
304:
303:
297:
289:
285:
280:
275:
271:
267:
262:
257:
253:
249:
245:
238:
236:
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232:
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226:
224:
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211:
209:
206:
196:
188:
179:
177:
173:
169:
164:
149:
145:
142:
140:
136:
131:
128:
127:
121:
119:
114:
110:
101:
93:
84:
82:
72:
70:
66:
61:
51:
47:
42:
37:
29:
22:
2130:
2124:Corepressor:
2105:
2099:Coactivator:
2055:
2041:
2027:
1950:
1931:
1831:
1806:
1792:
1778:
1764:
1750:
1736:
1722:
1703:
1678:
1664:
1645:
1631:
1617:
1603:
1578:
1559:
1545:
1531:
1517:
1498:
1484:
1470:
1456:
1442:
1423:
1341:
984:
965:Macrocephaly
811:
807:Acheiropodia
779:Ectrodactyly
699:
680:
565:Oligodactyly
560:Clinodactyly
489:Appendicular
423:
412:
388:
377:
366:
355:
321:
300:
296:
251:
247:
202:
194:
185:
162:
159:
143:
132:
124:
122:
117:
112:
108:
106:
81:macrocephaly
78:
75:Presentation
59:
58:
995:Saddle nose
762:Webbed toes
753:Polydactyly
638:Genu valgum
570:Polydactyly
414:GeneReviews
65:polydactyly
2157:Categories
970:Platybasia
906:Oxycephaly
819:Phocomelia
813:Ectromelia
789:Stub thumb
757:Syndactyly
724:Hammer toe
693:Pigeon toe
643:Genu varum
615:Coxa valga
473:Congenital
379:DiseasesDB
214:References
182:Management
2021:Ungrouped
1022:Scoliosis
829:Hemimelia
714:Pes cavus
707:Flat feet
688:Club foot
620:Coxa vara
390:SNOMED CT
302:synd/1859
270:1750-1172
254:(1): 10.
191:Prognosis
156:Diagnosis
1072:Cervical
519:shoulder
515:clavicle
497:dysmelia
425:Orphanet
395:32985001
288:18435847
139:autosome
1772:ACD/MPV
1087:sternum
279:2397380
2107:CREBBP
1927:MODY 5
1922:MODY 3
1686:STHAG3
1639:MODY 9
1547:POU3F4
1539:DFNA15
1533:POU4F3
1478:MODY 4
1458:HOXD13
1366:MRX 89
1361:MODY 7
1295:MODY 1
1110:other:
824:Amelia
701:valgus
362:175700
286:
276:
268:
199:Eponym
174:, and
69:hallux
2049:TNDM1
2043:ZFP57
1952:SOX10
1808:FOXP3
1794:FOXL2
1780:FOXI1
1766:FOXF1
1752:FOXE3
1738:FOXE1
1724:FOXC2
1705:FOXC1
1553:DFNX2
1519:PITX2
1486:LMX1B
1077:Bifid
958:other
875:Axial
682:varus
384:31558
2079:OFC8
2057:TP63
2029:TCF4
1974:4.11
1833:IRF6
1814:IPEX
1680:PAX9
1666:PAX8
1647:PAX6
1633:PAX4
1619:PAX3
1605:PAX2
1580:ZEB2
1561:ZEB1
1511:OFC5
1500:MSX1
1472:PDX1
1444:MNX1
1268:CAIS
1263:MAIS
1258:PAIS
1063:ribs
630:knee
506:Arms
493:limb
368:MeSH
357:OMIM
284:PMID
266:ISSN
208:FRSE
178:.
163:Gli3
126:Gli3
118:GLI3
113:GLI3
109:GLI3
2001:0.6
1933:SF1
1910:4.7
1884:4.3
1868:4.2
1825:3.5
1697:3.3
1597:3.2
1425:ARX
1417:3.1
1390:2.5
1335:2.3
1314:2.2
1246:):
1236:2.1
1207:1.3
1186:1.2
593:hip
584:Leg
430:380
328:NLM
326:at
305:at
274:PMC
256:doi
71:).
2159::
2132:HR
755:/
603:/
517:/
495:/
479:/
428::
417::
393::
382::
371::
360::
282:.
272:.
264:.
250:.
246:.
222:^
210:.
170:,
2139:)
2135:(
2077:/
2073:/
2069:/
2065:/
1344:/
1242:(
1159:e
1152:t
1145:v
1089::
1065::
465:e
458:t
451:v
349:D
290:.
258::
252:3
63:(
30:.
23:.
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