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Article

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD II.

Human genetics - 1 Jul 2003

Ryther Robin C C, McGuinness Lindsay M, Phillips John A, Moseley Chanda T, Magoulas Charalambos B, Robinson Iain C A F, Patton James G

Abstract excerpt

Isolated growth hormone deficiency type II (IGHD II) is characterized by short stature due to dominant-negative mutations of the human growth hormone gene (GH1). Most of the known mutations responsible for IGHD II cause aberrant splicing of GH1 transcripts. We have recently shown that mutations that cause exon 3 skipping and produce a dominant-negative 17.5-kDa isoform in humans also cause a dose-dependent...

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PMID: 12720086
DOI: 10.1007/s00439-003-0949-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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