A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microc...

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Published in:Am J Hum Genet
Main Authors: Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Rosenfeld, Jill A., Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F., Lee, Hane, Dorrani, Naghmeh, Goldstein, David B., Xiao, Rui, Yang, Yaping, Posey, Jennifer E., Martinez-Agosto, Julian A., Lupski, James R., Wangler, Michael F., Shashi, Vandana
Format: Artigo
Language:Inglês
Published: Elsevier 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5294886/
https://ncbi.nlm.nih.gov/pubmed/28132692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.12.013
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