Article

Genetic variations, clinical presentation and treatment outcome of isolated growth hormone deficiency type I and II: case series and review of the literature

2024-01-02

Abstract excerpt

<title>Abstract</title> <p><bold>Purpose</bold>: To report a case series of four patients with isolated growth hormone deficiency (IGHD) type I from two Chinese pedigrees and to elucidate phenotype-genotype correlation of IGHD type I and II with <italic>GH1</italic> gene alterations in the literature. <bold>Methods:</bold> Whole exome sequencing (WES) were performed and a literature review was conducted. <bold>Re...

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Literature Corpus work: 2d727e03-7fce-570e-9baa-1e774132d1c9
DOI: 10.21203/rs.3.rs-3797196/v1

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