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[Prenatal diagnosis for two families affected with cleidocranial dysplasia due to novel RUNX2 variants].

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

Jiao Zhihui, Chen Yibing, Zhao Zhenhua, Wu Qinghua, Ren Shumin, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To analyze variants of RUNX2 gene in two pedigrees affected with cleidocranial dysplasia and provide prenatal diagnosis for them. METHODS: For the two probands, the coding sequences of the RUNX2 gene were analyzed with PCR and bidirectional Sanger sequencing. To verify the results, peripheral blood samples were collected from their parents and 100 healthy controls. For family 1, umbilical cord blood...

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Identifiers

PMID: 31813142
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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