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Article

Growth hormone deficiency in 2 siblings associated with combined GH1 gene polymorphisms.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 May 2012

Yamamoto M, Iguchi G, Fukuoka H, Miyako K, Takahashi Y

Abstract excerpt

This study was performed to clarify the pathophysiology of familial short stature with moderate GH deficiency.The siblings showed moderate GH deficiency with short stature. Pedigree analysis revealed an accumulation of the history of short stature in father's relatives, although there was no consanguinity.We performed sequencing analysis of GH1 and GHSR gene in the siblings.We detected SNPs in the GH1 gene in the...

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Identifiers

PMID: 22549341
DOI: 10.1055/s-0032-1309011

Genes

GHSR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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