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Article

[Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome].

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

Cheng Qingqing, Chu Wei, Huo Ping, Shi Zijia, Zheng Zongpeng, Wang Junxia, Gao Jian

Abstract excerpt

OBJECTIVE: To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with Oral-facial-digital syndrome type I (OFD1). METHODS: A pedigree with OFD1 who presented at Hebei General Hospital on March 17, 2021 was selected as the subject. Clinical data of the child was collected. Trio-whole exome sequencing (trio-WES) was carried out for the proband and members of her pedigree, and candidate...

Topics

Humans
Female
Pedigree
Orofaciodigital Syndromes
East Asian People
Phenotype
Heterozygote
Mutation
China

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 36709942
DOI: 10.3760/cma.j.cn511387-20220110-00024

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-36709942-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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