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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Korean Child Neurology Society 2021-10-01
Series:Annals of Child Neurology
Subjects:
allan-herndon-dudley syndrome
slc16a2 protein, human
mental retardation, x-linked
cataplexy
Online Access:http://www.annchildneurol.org/upload/pdf/acn-2021-00423.pdf

Internet

http://www.annchildneurol.org/upload/pdf/acn-2021-00423.pdf

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