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[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Xie Bobo, Fan Xin, Wei Xianda, Gui Baoheng, Wei Xiaojiao, Ma Yunting, Feng Shihan, Chen Yujun

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology for a child with developmental delay, impaired growth, facial dysmorphism, and axonal neuropathy (DIGFAN). METHODS: A child who was admitted to the Second Affiliated Hospital of Guangxi Medical University on March 22, 2021 was selected the study subject. Clinical data of the child was collected. Following extraction of genomic DNA, the child and his...

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PMID: 38311566
DOI: 10.3760/cma.j.cn511374-20221205-00841

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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