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[Clinical features and genetic analysis of a case of Wiedemann-Steiner syndrome due to variant of KMT2A gene].

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

Ai Qi, Chen Yun, Chen Sen

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology of a child with Wiedemann-Steiner syndrome. METHODS: A child with WSS who was admitted to the Hematology Department of Tianjin Children's Hospital in May 2021 was selected as the subject. Clinical data of the child was collected. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA. The child was...

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Identifiers

PMID: 36709945
DOI: 10.3760/cma.j.cn511390-20210610-00492

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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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