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Article

New GH-1 gene mutations: expanding the spectrum of causes of isolated growth hormone deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Dec 2002

Mullis Primus E, Deladoëy Johnny, Dannies Priscilla S

Abstract excerpt

Estimates of the frequency of growth hormone deficiency (GHD) range from 1:4,000 to 1:10,000. Most cases are sporadic and presumed to be secondary to one of a wide variety of causes. However, in families with consanguinity, or when a second case occurs in the same family, a genetic cause may be suspected. Four distinct familial types of isolated GHD (IGHD) have been well differentiated on the basis of...

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PMID: 12510984

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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