53:
29:
273:
859:
194:
776:
139:. As the infant grows, however, their arms and legs do not develop properly, and their body becomes thicker and shorter than normal. The following are characteristics consistent with this condition:
1389:
1881:
2098:
310:
Life expectancy for individuals with hypochondroplasia is normal; height is about 132–147 centimetres (4 ft 4 in – 4 ft 10 in).
2017:
1286:
1737:
1382:
1441:
905:
681:
264:
is available to ascertain hypochondroplasia. However, the physical characteristics are one of the most important in determining the condition.
1482:
2189:
1898:
1375:
240:. In FGFR3, some 20 different mutations have been associated with hypochondroplasia, and it seems to have a role in skeletal dysplasia.
1894:
1466:
550:"Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias"
2147:
1923:
1798:
1764:
1549:
967:
1983:
1526:
1477:
727:
990:
699:
2194:
1935:
1802:
1778:
2123:
2038:
2000:
1595:
1572:
1340:
1314:
123:
and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed
1691:
1663:
1647:
1195:
1176:
1000:
972:
898:
791:
1352:
1345:
1773:
2110:
1886:
1446:
737:
709:
110:
1319:
1971:
1959:
2158:
2088:
1841:
1454:
1909:
1753:
1725:
1514:
944:
891:
2093:
2056:
1119:
1063:
995:
874:
2022:
1068:
324:
2135:
2073:
2010:
1856:
1684:
1672:
1407:
1230:
1185:
656:
2184:
1947:
1521:
1502:
1434:
1306:
1291:
350:
52:
2179:
1864:
1816:
1626:
1567:
802:
222:
1869:
1704:
1279:
1216:
2199:
1616:
1610:
1450:
1246:
1167:
2077:
1470:
1398:
1296:
1084:
962:
922:
914:
351:"Hypochondroplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
1498:
1429:
413:
Bober, Michael B.; Bellus, Gary A.; Nikkel, Sarah M.; Tiller, George E. (1 January 1993).
8:
1812:
1808:
1489:
1335:
1266:
1113:
1051:
864:
630:
1786:
1253:
582:
549:
291:
283:
174:
156:
106:
61:
498:"NM_000142.4(FGFR3):c.1950G>C (p.Lys650Asn) AND Hypochondroplasia - ClinVar - NCBI"
1827:
1676:
1656:
1652:
1367:
1155:
813:
733:
705:
675:
587:
569:
548:
Foldynova-Trantirkova, Silvie; Wilcox, William R.; Krejci, Pavel (21 December 2016).
497:
422:
380:
79:
41:
1720:
1715:
1680:
1640:
1412:
1233:
1144:
1089:
1058:
577:
561:
287:
257:
253:
46:
1708:
1274:
1241:
1023:
807:
295:
276:
261:
202:
523:
474:"Entry - *134934 - FIBROBLAST GROWTH FACTOR RECEPTOR 3; FGFR3 - OMIM - (MIRROR)"
2034:
1942:
1874:
1696:
1668:
1204:
1150:
1104:
1018:
1010:
927:
818:
319:
218:
842:
785:
414:
2173:
2042:
1732:
1494:
1028:
573:
214:
210:
143:
2051:
1978:
1461:
591:
426:
294:
is advised for individuals and their families. Specifically in the case of
182:
28:
1135:
883:
837:
299:
768:
448:
1749:
954:
565:
473:
237:
151:
120:
1966:
1954:
1930:
1131:
982:
936:
2084:
1918:
1790:
1094:
124:
701:
Pediatric
Endocrinology a Practical Clinical Guide, Second Edition
272:
1263:
547:
229:
796:
605:
2130:
1836:
1794:
780:
249:
233:
193:
2142:
2118:
1744:
1544:
1509:
206:
162:
136:
115:
2105:
2029:
2005:
1635:
1590:
1045:
228:
Hypochondroplasia can be caused by point mutations such as
282:
Treatment of hypochondroplasia usually takes the form of
412:
135:
Individuals affected by this disorder appear normal at
36:
Hypochondroplasia is autosomal dominant in inheritance.
1397:
698:
ed, Sally
Radovick; MacGillivray, Margaret H. (2010).
119:) that results in a disproportionately short stature,
2099:
Junctional epidermolysis bullosa with pyloric atresia
201:
This disorder results from mutations in the proximal
185:
16.3. There is currently no cure for this condition.
758:
1287:Autosomal recessive multiple epiphyseal dysplasia
2171:
1738:Congenital insensitivity to pain with anhidrosis
606:"OMIM Entry - # 146000 - HYPOCHONDROPLASIA; HCH"
248:The diagnosis of this condition can be done via
697:
1383:
899:
631:"Hypochondroplasia - Conditions - GTR - NCBI"
381:"Hypochondroplasia - Genetics Home Reference"
1483:Gonadotropin-releasing hormone insensitivity
1899:Congenital amegakaryocytic thrombocytopenia
680:: CS1 maint: numeric names: authors list (
375:
373:
371:
209:gene. This gene plays an important role in
105:) is a developmental disorder caused by an
1984:Autoimmune lymphoproliferative syndrome 1A
1467:Follicle-stimulating hormone insensitivity
1390:
1376:
913:
906:
892:
729:Encyclopedia of human genetics and disease
51:
27:
2148:X-linked severe combined immunodeficiency
1924:TNF receptor associated periodic syndrome
581:
213:, helping to regulate activities such as
368:
271:
192:
1936:Selective immunoglobulin A deficiency 2
1527:Aspirin-exacerbated respiratory disease
2172:
2111:EDAR hypohidrotic ectodermal dysplasia
2039:Familial exudative vitreoretinopathy 4
1596:Familial exudative vitreoretinopathy 1
991:Spondyloepiphyseal dysplasia congenita
345:
343:
341:
339:
1803:Hereditary hemorrhagic telangiectasia
1779:Persistent MĂĽllerian duct syndrome II
1550:Jansen's metaphyseal chondrodysplasia
1371:
968:Jansen's metaphyseal chondrodysplasia
887:
725:
704:(2nd ed.). Dordrecht: Springer.
655:RESERVED, INSERM US14 -- ALL RIGHTS.
521:
408:
406:
404:
402:
400:
398:
396:
173:Hypochondroplasia is inherited as an
130:
2124:Nevoid basal-cell carcinoma syndrome
1573:Familial hypocalciuric hypercalcemia
1315:Rhizomelic chondrodysplasia punctata
732:. Santa Barbara, Calif.: Greenwood.
654:
1887:Surfactant metabolism dysfunction 4
1001:Otospondylomegaepiphyseal dysplasia
973:Schmid metaphyseal chondrodysplasia
336:
13:
2190:Cell surface receptor deficiencies
2136:BMPR1A juvenile polyposis syndrome
2057:LDLR Familial hypercholesterolemia
691:
393:
188:
14:
2211:
1447:Luteinizing hormone insensitivity
754:
111:fibroblast growth factor receptor
1515:Nephrogenic diabetes insipidus 1
1341:Short rib – polydactyly syndrome
857:
1455:Male-limited precocious puberty
1346:Majewski's polydactyly syndrome
648:
623:
92:Special education, Laminectomy
1842:Leber's congenital amaurosis 1
1754:Gastrointestinal stromal tumor
598:
541:
515:
490:
466:
441:
252:(with lack of normal distance
1:
1120:Hereditary multiple exostoses
1064:Polyostotic fibrous dysplasia
996:Multiple epiphyseal dysplasia
657:"Orphanet: Hypochondroplasia"
330:
2195:Autosomal dominant disorders
1353:Léri–Weill dyschondrosteosis
325:List of congenital disorders
305:
267:
243:
7:
1435:Congenital hypothyroidism 1
313:
10:
2216:
2094:Glanzmann's thrombasthenia
2074:Immunoglobulin superfamily
1726:Rabson–Mendenhall syndrome
1408:G protein-coupled receptor
1320:Conradi–Hünermann syndrome
945:Camurati–Engelmann disease
522:Reference, Genetics Home.
2066:
1993:
1948:Hyper-IgM syndrome type 3
1908:
1855:
1826:
1763:
1625:
1609:
1582:
1559:
1536:
1421:
1406:
1328:
1307:Chondrodysplasia punctata
1305:
1292:Atelosteogenesis, type II
1262:
1229:
1194:
1175:
1166:
1130:
1103:
1083:
1037:
1009:
981:
953:
935:
921:
828:
762:
726:Kelly, Evelyn B. (2013).
355:rarediseases.info.nih.gov
88:
78:
70:
60:
40:
35:
26:
21:
2023:Cenani–Lenz syndactylism
1865:Type I cytokine receptor
1503:Hirschsprung's disease 2
1069:McCune–Albright syndrome
168:
1705:Thanatophoric dysplasia
1499:Waardenburg syndrome 4a
1217:Thanatophoric dysplasia
528:Genetics Home Reference
449:"Dwarfism: MedlinePlus"
84:Physical finding, X-ray
2159:cell surface receptors
2011:Donnai–Barrow syndrome
1685:Jackson–Weiss syndrome
1673:Antley–Bixler syndrome
1657:KAL2 Kallmann syndrome
1611:Enzyme-linked receptor
1451:Leydig cell hypoplasia
1186:Antley–Bixler syndrome
1168:Growth factor receptor
915:Osteochondrodysplasias
279:
198:
109:genetic defect in the
1471:XX gonadal dysgenesis
1399:Cell surface receptor
1297:Diastrophic dysplasia
963:Metaphyseal dysplasia
275:
211:embryonic development
196:
1817:Loeys–Dietz syndrome
635:www.ncbi.nlm.nih.gov
502:www.ncbi.nlm.nih.gov
260:), and additionally
177:trait affecting the
1336:Fibrochondrogenesis
1114:osteochondromatosis
1052:Boomerang dysplasia
415:"Hypochondroplasia"
74:FGFR3 gene mutation
1787:TGF beta receptors
1254:Hypochondrogenesis
829:External resources
566:10.1002/humu.21636
292:Genetic counseling
284:orthopedic surgery
280:
199:
175:autosomal dominant
157:Skeletal dysplasia
131:Signs and symptoms
107:autosomal dominant
66:Skeletal dysplasia
2167:
2166:
1851:
1850:
1701:Hypochondroplasia
1677:Pfeiffer syndrome
1653:Pfeiffer syndrome
1605:
1604:
1365:
1364:
1361:
1360:
1225:
1224:
1210:Hypochondroplasia
1156:Maffucci syndrome
1079:
1078:
875:Hypochondroplasia
852:
851:
843:Hypochondroplasia
99:Hypochondroplasia
96:
95:
80:Diagnostic method
22:Hypochondroplasia
16:Medical condition
2207:
2185:Growth disorders
1721:Donohue syndrome
1681:Crouzon syndrome
1641:Robinow syndrome
1623:
1622:
1419:
1418:
1392:
1385:
1378:
1369:
1368:
1267:sulfation defect
1234:collagen disease
1173:
1172:
1145:enchondromatosis
1101:
1100:
1090:chondrodystrophy
1085:Chondrodysplasia
1059:Opsismodysplasia
933:
932:
908:
901:
894:
885:
884:
861:
860:
760:
759:
750:
748:
746:
722:
720:
718:
686:
685:
679:
671:
669:
667:
652:
646:
645:
643:
641:
627:
621:
620:
618:
616:
602:
596:
595:
585:
545:
539:
538:
536:
534:
519:
513:
512:
510:
508:
494:
488:
487:
485:
484:
470:
464:
463:
461:
459:
445:
439:
437:
435:
433:
410:
391:
390:
388:
387:
377:
366:
365:
363:
361:
347:
298:, one option is
288:physical therapy
56:
55:
47:Medical genetics
31:
19:
18:
2215:
2214:
2210:
2209:
2208:
2206:
2205:
2204:
2180:Skeletal system
2170:
2169:
2168:
2163:
2067:Other/ungrouped
2062:
2043:Osteopetrosis 1
1989:
1904:
1847:
1822:
1759:
1709:Muenke syndrome
1615:
1613:
1601:
1578:
1555:
1532:
1410:
1402:
1396:
1366:
1357:
1324:
1301:
1275:Achondrogenesis
1258:
1242:Achondrogenesis
1221:
1190:
1162:
1126:
1092:
1088:
1075:
1038:Other/ungrouped
1033:
1024:Osteopoikilosis
1005:
977:
949:
926:
917:
912:
882:
881:
880:
862:
858:
853:
848:
847:
824:
823:
771:
757:
744:
742:
740:
716:
714:
712:
694:
692:Further reading
689:
673:
672:
665:
663:
653:
649:
639:
637:
629:
628:
624:
614:
612:
604:
603:
599:
546:
542:
532:
530:
520:
516:
506:
504:
496:
495:
491:
482:
480:
478:mirror.omim.org
472:
471:
467:
457:
455:
447:
446:
442:
431:
429:
411:
394:
385:
383:
379:
378:
369:
359:
357:
349:
348:
337:
333:
316:
308:
296:spinal stenosis
277:Spinal stenosis
270:
262:genetic testing
246:
223:differentiation
203:tyrosine kinase
191:
189:Pathophysiology
171:
161:Abnormality of
133:
50:
17:
12:
11:
5:
2213:
2203:
2202:
2197:
2192:
2187:
2182:
2165:
2164:
2162:
2161:
2156:
2152:
2151:
2139:
2127:
2102:
2101:
2096:
2091:
2081:
2080:
2070:
2068:
2064:
2063:
2061:
2060:
2047:
2046:
2035:Worth syndrome
2026:
2014:
1997:
1995:
1994:Lipid receptor
1991:
1990:
1988:
1987:
1975:
1963:
1951:
1939:
1927:
1914:
1912:
1906:
1905:
1903:
1902:
1891:
1890:
1878:
1875:Laron syndrome
1861:
1859:
1853:
1852:
1849:
1848:
1846:
1845:
1832:
1830:
1824:
1823:
1821:
1820:
1806:
1783:
1782:
1769:
1767:
1761:
1760:
1758:
1757:
1750:KIT Piebaldism
1741:
1729:
1723:
1712:
1697:Achondroplasia
1688:
1669:Apert syndrome
1660:
1644:
1631:
1629:
1620:
1607:
1606:
1603:
1602:
1600:
1599:
1586:
1584:
1580:
1579:
1577:
1576:
1563:
1561:
1557:
1556:
1554:
1553:
1540:
1538:
1534:
1533:
1531:
1530:
1518:
1506:
1486:
1474:
1458:
1438:
1425:
1423:
1416:
1404:
1403:
1395:
1394:
1387:
1380:
1372:
1363:
1362:
1359:
1358:
1356:
1355:
1350:
1349:
1348:
1338:
1332:
1330:
1329:Other dwarfism
1326:
1325:
1323:
1322:
1317:
1311:
1309:
1303:
1302:
1300:
1299:
1294:
1289:
1284:
1283:
1282:
1271:
1269:
1260:
1259:
1257:
1256:
1251:
1250:
1249:
1238:
1236:
1227:
1226:
1223:
1222:
1220:
1219:
1214:
1213:
1212:
1205:Achondroplasia
1201:
1199:
1192:
1191:
1189:
1188:
1182:
1180:
1170:
1164:
1163:
1161:
1160:
1159:
1158:
1153:
1151:Ollier disease
1140:
1138:
1128:
1127:
1125:
1124:
1123:
1122:
1109:
1107:
1105:Osteochondroma
1098:
1081:
1080:
1077:
1076:
1074:
1073:
1072:
1071:
1061:
1056:
1055:
1054:
1041:
1039:
1035:
1034:
1032:
1031:
1026:
1021:
1019:Raine syndrome
1015:
1013:
1011:Osteosclerosis
1007:
1006:
1004:
1003:
998:
993:
987:
985:
979:
978:
976:
975:
970:
965:
959:
957:
951:
950:
948:
947:
941:
939:
930:
928:osteodystrophy
923:Osteodysplasia
919:
918:
911:
910:
903:
896:
888:
863:
856:
855:
854:
850:
849:
846:
845:
833:
832:
830:
826:
825:
822:
821:
810:
799:
788:
772:
767:
766:
764:
763:Classification
756:
755:External links
753:
752:
751:
738:
723:
710:
693:
690:
688:
687:
647:
622:
597:
554:Human Mutation
540:
514:
489:
465:
440:
392:
367:
334:
332:
329:
328:
327:
322:
320:Achondroplasia
315:
312:
307:
304:
269:
266:
245:
242:
205:domain of the
190:
187:
170:
167:
166:
165:
159:
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132:
129:
94:
93:
90:
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75:
72:
68:
67:
64:
58:
57:
44:
38:
37:
33:
32:
24:
23:
15:
9:
6:
4:
3:
2:
2212:
2201:
2200:Rare diseases
2198:
2196:
2193:
2191:
2188:
2186:
2183:
2181:
2178:
2177:
2175:
2160:
2157:
2154:
2153:
2149:
2145:
2144:
2140:
2137:
2133:
2132:
2128:
2125:
2121:
2120:
2116:
2115:
2114:
2112:
2108:
2107:
2100:
2097:
2095:
2092:
2090:
2086:
2083:
2082:
2079:
2075:
2072:
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2069:
2065:
2058:
2054:
2053:
2049:
2048:
2044:
2040:
2036:
2032:
2031:
2027:
2024:
2020:
2019:
2015:
2012:
2008:
2007:
2002:
1999:
1998:
1996:
1992:
1985:
1981:
1980:
1976:
1973:
1969:
1968:
1964:
1961:
1957:
1956:
1952:
1949:
1945:
1944:
1940:
1937:
1933:
1932:
1928:
1925:
1921:
1920:
1916:
1915:
1913:
1911:
1907:
1900:
1896:
1893:
1892:
1888:
1884:
1883:
1879:
1876:
1872:
1871:
1866:
1863:
1862:
1860:
1858:
1854:
1843:
1839:
1838:
1834:
1833:
1831:
1829:
1825:
1818:
1814:
1810:
1807:
1804:
1800:
1796:
1792:
1788:
1785:
1784:
1780:
1776:
1775:
1771:
1770:
1768:
1766:
1762:
1755:
1751:
1747:
1746:
1742:
1739:
1735:
1734:
1730:
1727:
1724:
1722:
1718:
1717:
1713:
1710:
1706:
1702:
1698:
1694:
1693:
1689:
1686:
1682:
1678:
1674:
1670:
1666:
1665:
1661:
1658:
1654:
1650:
1649:
1645:
1642:
1638:
1637:
1633:
1632:
1630:
1628:
1624:
1621:
1618:
1617:growth factor
1612:
1608:
1597:
1593:
1592:
1588:
1587:
1585:
1581:
1574:
1570:
1569:
1565:
1564:
1562:
1558:
1551:
1547:
1546:
1542:
1541:
1539:
1535:
1528:
1524:
1523:
1519:
1516:
1512:
1511:
1507:
1504:
1500:
1496:
1495:ABCD syndrome
1492:
1491:
1487:
1484:
1480:
1479:
1475:
1472:
1468:
1464:
1463:
1459:
1456:
1452:
1448:
1444:
1443:
1439:
1436:
1432:
1431:
1427:
1426:
1424:
1420:
1417:
1414:
1409:
1405:
1400:
1393:
1388:
1386:
1381:
1379:
1374:
1373:
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215:cell division
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183:chromosome 4p
180:
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164:
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158:
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148:Short stature
147:
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144:Brachydactyly
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2050:
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1977:
1965:
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1917:
1910:TNF receptor
1880:
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1401:deficiencies
1209:
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871:profile for
868:
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728:
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660:
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634:
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609:
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560:(1): 29–41.
557:
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543:
531:. Retrieved
527:
524:"FGFR3 gene"
517:
505:. Retrieved
501:
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481:. Retrieved
477:
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456:. Retrieved
452:
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384:. Retrieved
358:. Retrieved
354:
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281:
247:
227:
200:
178:
172:
134:
114:
102:
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1411:(including
1136:enchondroma
1093:(including
838:GeneReviews
745:21 December
717:21 December
666:21 December
640:21 December
615:21 December
533:21 December
507:21 December
458:21 December
438:update 2013
432:18 December
419:GeneReviews
360:21 December
300:laminectomy
2174:Categories
1614:(including
955:Metaphysis
814:DiseasesDB
483:2023-02-28
386:2009-03-12
331:References
152:Micromelia
121:micromelia
1967:TNFRSF13B
1955:TNFRSF13C
1931:TNFRSF13B
1132:Chondroma
983:Epiphysis
937:Diaphysis
574:1059-7794
306:Prognosis
268:Treatment
244:Diagnosis
219:migration
89:Treatment
42:Specialty
2155:See also
2085:Integrin
1919:TNFRSF1A
1857:JAK-STAT
1791:Endoglin
1095:dwarfism
676:cite web
610:omim.org
592:22045636
427:20301650
314:See also
181:gene on
125:dwarfism
113:3 gene (
62:Symptoms
2078:AGM3, 6
1979:TNFRSF6
1943:TNFRSF5
1583:Class F
1560:Class C
1537:Class B
1422:Class A
1413:hormone
1280:type 1B
1264:SLC26A2
865:Scholia
808:C562937
583:3240715
2131:BMPR1A
1882:CSF2RA
1837:GUCY2D
1813:TGFBR2
1809:TGFBR1
1522:PTGER2
1247:type 2
1231:COL2A1
867:has a
797:146000
736:
708:
590:
580:
572:
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250:X-rays
232:
71:Causes
49:
2143:IL2RG
2119:PTCH1
1972:CVID2
1960:CVID4
1799:SMAD4
1795:Alk-1
1774:AMHR2
1733:NTRK1
1692:FGFR3
1664:FGFR2
1648:FGFR1
1545:PTH1R
1510:AVPR2
1490:EDNRB
1478:GnRHR
1442:LHCGR
1196:FGFR3
1177:FGFR2
869:topic
819:32832
786:Q77.4
207:FGFR3
179:FGFR3
169:Cause
163:femur
137:birth
116:FGFR3
2106:EDAR
2089:LAD1
2052:LDLR
2030:LRP5
2018:LRP4
2006:LRP2
1765:STPK
1716:INSR
1636:ROR2
1591:FZD4
1568:CASR
1462:FSHR
1430:TSHR
1046:FLNB
803:MeSH
792:OMIM
747:2016
734:ISBN
719:2016
706:ISBN
682:link
668:2016
642:2016
617:2016
588:PMID
570:ISSN
535:2016
509:2016
460:2016
434:2016
423:PMID
362:2016
286:and
221:and
2001:LRP
1895:MPL
1745:KIT
1627:RTK
777:ICD
578:PMC
562:doi
453:NIH
256:to
238:Asn
236:650
234:Lys
197:TYK
103:HCH
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
