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Article

[Autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations: a report of 8 cases and literature review].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 May 2023

Wang Xiao-Le, Tian Ya-Nan, Chen Chen, Peng Jing

Abstract excerpt

OBJECTIVES: To summarize the clinical phenotype and genetic characteristics of children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations. METHODS: A retrospective analysis was performed on the medical data of 8 children with autosomal dominant mental retardation type 5 caused by SYNGAP1 gene mutations who were diagnosed and treated in the Department of Pediatrics, Xiangya...

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Identifiers

PMID: 37272175
DOI: 10.7499/j.issn.1008-8830.2301054
PMCID: PMC10247193

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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