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Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report

Isolated growth hormone (GH) deficiency (IGHD) type 2 is a rare autosomal dominant disorder characterized by severe short stature with low GH level. Timely diagnosis is important for optimal results of recombinant human GH (rhGH) treatment and detection of additional pituitary deficiencies in affect...

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Bibliografiske detaljer
Udgivet i:J Clin Res Pediatr Endocrinol
Main Authors: Kautsar, Ahmad, Wit, Jan M., Pulungan, Aman
Format: Artigo
Sprog:Inglês
Udgivet: Galenos Publishing 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6878336/
https://ncbi.nlm.nih.gov/pubmed/30678423
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0305
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