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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Am J Hum Genet
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2016
Schlagworte:
Report
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge