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[Clinical and genetic analysis of a patient with Craniofrontonasal syndrome].

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

Jin Juan, Lei Yu, Pu Qian, Yu Lei

Abstract excerpt

OBJECTIVE: To explore the clinical feature and genetic etiology of a patient with Craniofacial nasal syndrome (CNFS). METHODS: A patient with CNFS who had presented at the Guiyang Maternal and Child Health Care Hospital on November 13, 2021 was selected as the study subject. Clinical data of the patient were collected. Peripheral venous blood samples were collected from the patient and her parents and subjected...

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PMID: 37212007
DOI: 10.3760/cma.j.cn511374-20220830-00587

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