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[Clinical phenotype and genetic analysis of a child with Hereditary hemorrhagic telangiectasia combined with growth hormone deficiency due to variant of ENG gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2025

Sun Mengxin, Yan Hong, Sun Wenjie, Wang Jie, Li Kunxia

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic etiology in a child with Hereditary hemorrhagic telangiectasia (HHT) complicated by growth hormone deficiency. METHODS: A child presented at Yantai Yuhuangding Hospital in October 2014 for "short stature for over 4 years" was selected as the study subject. Peripheral venous blood samples were collected from the child and his parents for genomic DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41645380
DOI: 10.3760/cma.j.cn511374-20241204-00635

Genes

ENG

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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