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[Analysis of clinical features and genetic variant in a child with Cowden syndrome 1].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Yan Lulu, Tian Liyun, Zhang Yuxin, Liu Yingwen, Cao Juan, Li Dongmei, Zou Jinghui, Li Haibo

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with Cowden syndrome 1 (CS1). METHODS: A child who had visited the Ningbo Women and Children's Hospital on August 26, 2022 was selected as the study subject. Clinical information of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members and subjected to whole exome sequencing (WES). Candidate...

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Identifiers

PMID: 38311565
DOI: 10.3760/cma.j.cn511374-20221213-00870

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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