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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Detaylı Bibliyografya
Yayımlandı:Am J Hum Genet
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2016
Konular:
Report
Online Erişim: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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