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[Clinical phenotype and genetic analysis of a child with Acid-labile subunit deficiency due to variant of IGFALS gene].

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

Wang Yanli, Lu Zhijin, Cheng Shuangxi, Wang Yan, Yuan Haiming, Yuan Huihua

Abstract excerpt

OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of a child with Acid-labile subunit deficiency (ALS). METHODS: A male child diagnosed with ALS at Dongguan Maternal and Child Health Care Hospital in March 2021 was selected as the study subject. Clinical data of his family was collected. Peripheral blood samples were collected from the child and his parents. Following extraction of genomic...

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Carrier Proteins
Child, Preschool
Exome Sequencing
Glycoproteins
Insulin-Like Growth Factor Binding Protein 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Insulin-Like Growth Factor I

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Identifiers

PMID: 41811044
DOI: 10.3760/cma.j.cn511374-20241122-00615

Genes

IGFALS
IGFBP3

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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