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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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Detalles Bibliográficos
Autores principales:	Galli-Tsinopoulou, Assimina, Kotanidou, Eleni P., Kleisarchaki, Aggeliki N., Kauli, Rivka, Laron, Zvi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6083476/ https://www.ncbi.nlm.nih.gov/pubmed/29537382 http://dx.doi.org/10.4274/jcrpe.5188

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