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[Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome].

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

Yang Jianmei, Shang Xiaohong, Liu Fan, Wang Qian, Liu Caihong, Sun Yan, Li Guimei

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS). METHODS: Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted...

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PMID: 33751531
DOI: 10.3760/cma.j.cn511374-20200625-00472

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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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