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

• Autori principali: Ji Yeon Han (Autore), Seungbok Lee (Autore), Hyewon Woo (Autore), Soo Yeon Kim (Autore), Hunmin Kim (Autore), Byung Chan Lim (Autore), Hee Hwang (Autore), Jieun Choi (Autore), Ki Joong Kim (Autore), Jong-Hee Chae (Autore)
• Natura: Libro
• Pubblicazione: Korean Child Neurology Society, 2021-10-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...