Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

We have recently shown that Okihiro syndrome results from mutation in the putative zinc finger transcription factor gene SALL4 on chromosome 20q13.13-13.2. There is considerable overlap of clinical features of Okihiro syndrome with other conditions, most notably Holt-Oram syndrome, a condition in pa...

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Detalhes bibliográficos
Main Authors: Kohlhase, J, Schubert, L, Liebers, M, Rauch, A, Becker, K, Mohammed, S, Newbury-Ecob, R, Reardon, W
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2003
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735528/
https://ncbi.nlm.nih.gov/pubmed/12843316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.40.7.473
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