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Article

Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action.

The Journal of clinical endocrinology and metabolism - 1 Feb 2010

Petkovic Vibor, Godi Michela, Pandey Amit V, Lochmatter Didier, Buchanan Charles R, Dattani Mehul T, Eblé Andrée, Flück Christa E, Mullis Primus E

Abstract excerpt

CONTEXT AND OBJECTIVE: Main features of the autosomal dominant form of GH deficiency (IGHD II) include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to short stature. DESIGN, SETTING, AND PATIENTS: A female patient presented with short stature (height -6.0 sd score) and a delayed bone age of 2 yr at the chronological age of 5 yr. Later, at the age of 9 yr, GHD was confirmed by...

Topics

Animals
CHO Cells
Cells, Cultured
Child
Cricetinae
Cricetulus
Female
Human Growth Hormone
Humans
Janus Kinase 2
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Dynamics Simulation

Mutation

Receptors, Somatotropin

STAT5 Transcription Factor

Zinc

Source

Identifiers

PMID: 19952226
DOI: 10.1210/jc.2009-1247

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Growth hormone (GH) deficiency type II: a novel GH-1 gene mutation (GH-R178H) affecting secretion and action.PMID 19952226Read ↗

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