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[Analysis of clinical phenotype and genetic variant in a Chinese pedigree affected with cleidocranial dysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2022

Chen Yinhua, Gu Haibin, Tang Genxiong, Li Rong

Abstract excerpt

OBJECTIVE: To analyze the clinical features and pathogenic variant in a Chinese pedigree affected with cleidocranial dysplasia (CCD). METHODS: Clinical data of 8 patients from the pedigree was collected, including physical examination and X-ray images of head, face, spine, limbs, and mouth. Peripheral blood samples were collected from 6 affected members for the extraction of genomic DNA. The proband and other 3...

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PMID: 36317212
DOI: 10.3760/cma.j.cn511374-20211024-00845

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Source receipt: pubmed, retrieved 7 Sept 2026.

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