Article
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2021
May Halie J, Jeong Jaehoon, Revah-Politi Anya, Cohen Julie S, Chassevent Anna, Baptista Julia, Baugh Evan H, Bier Louise, Bottani Armand, Carminho A Rodrigues Maria Teresa, Conlon Charles, Fluss Joel, Guipponi Michel, Kim Chong Ae, Matsumoto Naomichi, Person Richard, Primiano Michelle, Rankin Julia, Shinawi Marwan, Smith-Hicks Constance, Telegrafi Aida, Toy Samantha, Uchiyama Yuri, Aggarwal Vimla, Goldstein David B, Roche Katherine W, Anyane-Yeboa Kwame
Abstract excerpt
PURPOSE: In this study, we aimed to characterize the clinical phenotype of a SHANK1-related disorder and define the functional consequences of SHANK1 truncating variants. METHODS: Exome sequencing (ES) was performed for six individuals who presented with neurodevelopmental disorders. Individuals were ascertained with the use of GeneMatcher and Database of Chromosomal Imbalance and Phenotype in Humans Using...
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