期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 99, 期 6, 页码 1388-1394出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2016.11.004
关键词
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资金
- NEI
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, characterized by coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. COMMAD is associated with biallelic MITF mutant alleles and hence suggests a role for MITF in regulating processes such as optic-fissure closure and bone development or homeostasis, which go beyond what is usually seen in individuals carrying monoallelic MITF mutations.
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