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

Almundher Al-Maawali, Brenda J. Barry, Anna Rajab, Malak El-Quessny, Ann Seman, Stephanie Newton Coury, A. James Barkovich, Edward Yang, Christopher A. Walsh, Ganeshwaran H. Mochida*, Joan M. Stoler

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

23 Citations (Scopus)

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Medicine & Life Sciences