A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
scientific article published on 25 January 2017
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author: Jennifer E. Posey, Michael F. Wangler, Mohamad A. Mikati, Undiagnosed Diseases Network, James R. Lupski, Yaping Yang, Nicholas Stong, Stanley F Nelson, Zeynep Coban Akdemir, Jill A Rosenfeld, Fernando Scaglia, Sujay Kansagra, Deeksha Bali
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