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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Publicat a:Am J Hum Genet
Autors principals: 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
Idioma:Inglês
Publicat: Elsevier 2017
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Accés en línia: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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