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Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures
Al-Maawali, Almundher, Barry, Brenda J., Rajab, Anna, El-Quessny, Malak, Seman, Ann, Coury, Stephanie Newton, Barkovich, A. James, Yang, Edward, Walsh, Christopher A., Mochida, Ganeshwaran H., Stoler,Volume:
170
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37422
Date:
February, 2016
File:
PDF, 348 KB
english, 2016