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Article

Genetic causes of growth hormone insensitivity beyond GHR.

Reviews in endocrine & metabolic disorders - 1 Mar 2021

Hwa Vivian, Fujimoto Masanobu, Zhu Gaohui, Gao Wen, Foley Corinne, Kumbaji Meenasri, Rosenfeld Ron G

Abstract excerpt

Growth hormone insensitivity (GHI) syndrome, first described in 1966, is classically associated with monogenic defects in the GH receptor (GHR) gene which result in severe post-natal growth failure as consequences of insulin-like growth factor I (IGF-I) deficiency. Over the years, recognition of other monogenic defects downstream of GHR has greatly expanded understanding of primary causes of GHI and growth...

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Identifiers

PMID: 33029712
DOI: 10.1007/s11154-020-09603-3
PMCID: PMC7979432

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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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