| 概要 |
Autosomal recessive omodysplasia (OMOD1) is a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican 6 (GPC6). An autosomal dominant form (OMOD2) involving only the upper limbs was later recognized as a separate disorder.
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| 著者 |
Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L |
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| 著者 |
Saal HM, Prows CA, Guerreiro I, Donlin M, Knudson L, Sund KL, Chang CF, Brugmann SA, Stottmann RW |
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