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Article

Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report.

BMC medical genomics - 2 Sept 2021

Yang Xi, Yuan Mingming, Li Zhuoguang, Ying Yanqin, Hou Ling, Luo Xiaoping

Abstract excerpt

BACKGROUND: A case of isolated growth hormone deficiency type IA (IGHD IA) caused by novel compound heterozygous mutation in the GH1 gene was reported in this study, which aimed to provide insights that will benefit future diagnosis and treatment. CASE PRESENTATION: We analyzed and summarized the clinical data and genetic test results from a patient with IGHD admitted in March 2019 to the Department of Pediatrics...

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Identifiers

PMID: 34470639
DOI: 10.1186/s12920-021-01057-z
PMCID: PMC8411534

Provenance

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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