Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness

Human MITF is, by convention, called the “microphthalmia-associated transcription factor” because of previously published seminal mouse genetic studies; however, mutations in MITF have never been associated with microphthalmia in humans. Here, we describe a syndrome that we term COMMAD, characterize...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: George, Aman, Zand, Dina J., Hufnagel, Robert B., Sharma, Ruchi, Sergeev, Yuri V., Legare, Janet M., Rice, Gregory M., Scott Schwoerer, Jessica A., Rius, Mariana, Tetri, Laura, Gamm, David M., Bharti, Kapil, Brooks, Brian P.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5142105/
https://ncbi.nlm.nih.gov/pubmed/27889061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.11.004
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