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Article

Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II.

Hormone research in paediatrics - 1 Jan 2013

Kempers M J E, van der Crabben S N, de Vroede M, Alfen-van der Velden J, Netea-Maier R T, Duim R A J, Otten B J, Losekoot M, Wit J M

Abstract excerpt

BACKGROUND: Congenital isolated growth hormone deficiency (IGHD) is a rare endocrine disorder that presents with severe proportionate growth failure. Dominant (type II) IGHD is usually caused by heterozygous mutations of GH1. The presentation of newly affected family members in 3 families with dominant IGHD in whom previous genetic testing had not demonstrated a GH1 mutation or had not been performed, prompted us...

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PMID: 24280736
DOI: 10.1159/000355403

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