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Article

Two different 5' splice site mutations in the growth hormone gene causing autosomal dominant growth hormone deficiency.

Human genetics - 1 Nov 1997

Missarelli C, Herrera L, Mericq V, Carvallo P

Abstract excerpt

Four distinct types of isolated growth hormone deficiency (IGHD) have been described to date. Of these IGHD type II has been defined as having a dominant mode of inheritance. We performed a molecular genetic analysis of two patients clinically characterized as IGHD type II. One of the patients and her father shared a heterozygous G-A transition in the first 5' donor splice site of intron III. The second father...

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PMID: 9385381
DOI: 10.1007/s004390050597

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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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