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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Detalhes bibliográficos
Publicado no:J Clin Res Pediatr Endocrinol
Main Authors: Galli-Tsinopoulou, Assimina, Kotanidou, Eleni P., Kleisarchaki, Aggeliki N., Kauli, Rivka, Laron, Zvi
Formato: Artigo
Idioma:Inglês
Publicado em: Galenos Publishing 2018
Assuntos:
Case Report
Acesso em linha: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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