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Article

[Analysis of a case with heterozygous 14q12 deletion and FOXG1 gene-related disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2021

Li Shufang, Sun Gege, Zhao Ganye, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To describe the clinical and genetic characteristics of a child with 14q12q13.1 deletion involving the FOXG1 gene. METHODS: Clinical manifestation of the child was analyzed. Peripheral blood sample of the patient was subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis. RESULTS: The male infant has developed feeding difficulty, poor sucking, lower limb...

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PMID: 33834467
DOI: 10.3760/cma.j.cn511374-20200307-00142

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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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