Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants

Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants

Abstract Background Houge type of X-linked syndromic mental retardation (MRXSHG) is a type of X-linked condition which is mainly manifested as delayed development, mental retardation, epilepsy that begins at an early age, and delayed language acquisition. MRXSHG is a serious disorder with CNKSR2 var...

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Bibliographic Details
Main Authors: Si-Hua Chang, Jie-Yuan Jin, Yi-Qiao Hu, Run-Yan Wang, Rong Xiang, Xia Wang
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Italian Journal of Pediatrics
Subjects:
CNKSR2
MRXSHG
Minigene
Truncated variants
Mental retardation
Online Access:https://doi.org/10.1186/s13052-025-01877-0
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