Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis,...

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The American Journal of Human Genetics 2016 / 11

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

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,
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Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2016.11.004
Date:
November, 2016
File:
PDF, 868 KB
english, 2016
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