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Article

Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein.

The Journal of clinical endocrinology and metabolism - 1 Nov 1994

Cogan J D, Phillips J A, Schenkman S S, Milner R D, Sakati N

Abstract excerpt

Two families with familial isolated GH deficiency (IGHD) were studied, type II (autosomal dominant) and type I (autosomal recessive), whose GH1 genes exhibit cosegregation with IGHD. DNA sequencing of the GH1 genes of the first family (IGHD II) demonstrated heterozygosity for a T-->C transition in the sixth base of the donor splice site of intron III. The GH1 gene mutation in the second family (IGHD I) was found,...

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Identifiers

PMID: 7962317
DOI: 10.1210/jcem.79.5.7962317

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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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