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  • Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Author List
Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM
Publication
American journal of medical genetics. Part A
Publication ID (Profile URL)
https://researcherprofiles.org/profile/1194372
Publication Year
2015
PubMed ID
26463574