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[Analysis of SMARCA2 gene mutation in a child with Nicolaides-Baraitser syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2019

Hu Xuyun, Guo Ruolan, Guo Jun, Li Wei, Liu Li, Hao Chanjuan

Abstract excerpt

OBJECTIVE: To explore the molecular basisfor a child featuring short stature, abnormal facial features and developmental delay. METHODS: Genomic DNA was extracted from peripheral blood samples from the child and his family members. Next-generation sequencing was carried out to screen the whole exomes of the core family. Detected variants were filtered and analyzed according to the standards and guidelines for the...

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Identifiers

PMID: 31813144
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.009

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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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