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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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Détails bibliographiques
Publié dans:J Clin Res Pediatr Endocrinol
Auteurs principaux: Kautsar, Ahmad, Wit, Jan M., Pulungan, Aman
Format: Artigo
Langue:Inglês
Publié: Galenos Publishing 2019
Sujets:
Accès en ligne: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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