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Article

Variable phenotypes in familial isolated growth hormone deficiency caused by a G6664A mutation in the GH-1 gene.

The Journal of clinical endocrinology and metabolism - 1 Nov 2007

Hess Ora, Hujeirat Yasir, Wajnrajch Michael P, Allon-Shalev Stavit, Zadik Zvi, Lavi Idit, Tenenbaum-Rakover Yardena

Abstract excerpt

CONTEXT: G to A transition at position 6,664 (G6664A) in human GH-1 results in the substitution of arginine by histidine at position 183 (R183H) of the GH molecule and causes familial isolated GH deficiency type II (IGHD II). OBJECTIVES: The objective of the study was to assess the phenotype-genotype correlation of subjects affected with IGHD II caused by a G6664A mutation in 34 affected members of two large...

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PMID: 17785368
DOI: 10.1210/jc.2007-0684

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

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