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Article

Isolated GH deficiency with dominant inheritance: new mutations, new insights.

The Journal of clinical endocrinology and metabolism - 1 Aug 2001

Binder G, Keller E, Mix M, Massa G G, Stokvis-Brantsma W H, Wit J M, Ranke M B

Abstract excerpt

Autosomal dominantly inherited isolated GH deficiency is caused by mutations of GH-1 that alter the normal structure of GH. We studied 16 familial cases and 1 sporadic case with isolated GH deficiency type II from 1 Dutch and 4 German families by direct sequencing of PCR-amplified genomic DNA and ectopic transcript analysis of lymphocyte mRNA. In addition, the clinical data of the affected individuals were...

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Source

Identifiers

PMID: 11502827
DOI: 10.1210/jcem.86.8.7757

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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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