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Article

Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency.

American journal of medical genetics - 31 Jan 2000

Leiberman E, Pesler D, Parvari R, Elbedour K, Abdul-Latif H, Brown M R, Parks J S, Carmi R

Abstract excerpt

Isolated growth hormone deficiency (IGHD) IB is an autosomal recessive disorder characterized by a good response to exogenous growth hormone (GH) treatment without development of anti-GH antibodies. Patients with IGHD IB were found to be compound heterozygotes for deletion and frameshift mutations as well as homozygotes for splicing mutations in the GH-1 gene. Recently, a novel splicing mutation in the GH-1 gene...

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PMID: 10678654

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