Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations

Purpose The purpose of this study was to expand our understanding of phenotypic and genetic variation in Allan-Herndon-Dudley syndrome (AHDS), which is a rare X-linked mental retardation syndrome characterized by hypotonia, generalized spasticity, and moderate-to-severe psychomotor retardation. AHDS...

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主要な著者:	Ji Yeon Han, Seungbok Lee, Hyewon Woo, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jieun Choi, Ki Joong Kim, Jong-Hee Chae
フォーマット:	Artigo
言語:	Inglês
出版事項:	Korean Child Neurology Society 2021-10-01
シリーズ:	Annals of Child Neurology
主題:	allan-herndon-dudley syndrome slc16a2 protein, human mental retardation, x-linked cataplexy
オンライン･アクセス:	http://www.annchildneurol.org/upload/pdf/acn-2021-00423.pdf
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