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Article

A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study.

The Journal of clinical endocrinology and metabolism - 1 Dec 1995

Cogan J D, Ramel B, Lehto M, Phillips J, Prince M, Blizzard R M, de Ravel T J, Brammert M, Groop L

Abstract excerpt

Familial isolated GH deficiency type II (IGHD-II) is an autosomal dominant disorder that has been previously shown in some patients to be caused by heterogeneous GH gene defects that affect GH messenger RNA (mRNA) splicing. We report here our finding of multiple G-->A transitions of the first bas...

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Identifiers

PMID: 8530604
DOI: 10.1210/jcem.80.12.8530604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8530604-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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