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[Phenotypic and genetic analysis of a Chinese pedigree affected with type 1 Otopalatodigital syndrome].

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

Zhang Bilin, Xiang Guangda, Xiang Shiqiang, Zhang Junxia

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic basis of a Chinese pedigree affected with Otopalatodigital syndrome type 1 (OPD1). METHODS: A pedigree which was evaluated at the Department of Endocrinology, General Hospital of the Central Theater Command on December 3, 2020 was selected as the study subject. Clinical phenotype and genetic features of the proband were analyzed. Whole exome sequencing was...

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PMID: 38684300
DOI: 10.3760/cma.j.cn511374-20230406-00189

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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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