A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib

Congenital isolated growth hormone deficiency (IGHD) type 1b is an autosomal recessive genetic condition caused by mutations of growth hormone (GH)-1 or the growth hormone releasing hormone receptor (GHRH-R) genes. Affected subjects present with symptoms of growth hormone deficiency (GHD) with low b...

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Bibliografiske detaljer
Udgivet i:J Clin Res Pediatr Endocrinol
Main Authors: Galli-Tsinopoulou, Assimina, Kotanidou, Eleni P., Kleisarchaki, Aggeliki N., Kauli, Rivka, Laron, Zvi
Format: Artigo
Sprog:Inglês
Udgivet: Galenos Publishing 2018
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6083476/
https://ncbi.nlm.nih.gov/pubmed/29537382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.5188
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