RAB23mutation in a large family from Comoros Islands with Carpenter syndrome
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference10 articles.
1. The roles of cilia in developmental disorders and disease;Bisgrove;Development,2006
2. Case of acrocephaly with other congenital malformations;Carpenter;Proc R Soc Med,1909
3. Acrocephalopolysyndactyly type II - Carpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summitt syndromes;Cohen;Am J Med Genet,1987
4. Rab23 is an essential negative regulator of the mouse Sonic hedgehog signalling pathway;Eggenschwiler;Nature,2001
5. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1;Gao;Nat Genet,2001
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