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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:J Clin Res Pediatr Endocrinol
Autori principali: Galli-Tsinopoulou, Assimina, Kotanidou, Eleni P., Kleisarchaki, Aggeliki N., Kauli, Rivka, Laron, Zvi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Galenos Publishing 2018
Soggetti:
Case Report
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi