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[Clinical and genetic analysis of a child with Mental retardation autosomal dominant 51].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2023

Tang Yulin, Li Xiaojing, Wu Wenlin, Shi Zhen, Chen Wenxiong, Tian Yang

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Mental retardation autosomal dominant 51 (MRD51). METHODS: A child with MRD51 who was hospitalized at Guangzhou Women and Children's Medical Center on March 4, 2022 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and her parents were collected and subjected to...

Topics

Humans
Female
Child, Preschool
Intellectual Disability
Autism Spectrum Disorder
Mutation

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37212005
DOI: 10.3760/cma.j.cn511374-20220720-00478

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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