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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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Detalles Bibliográficos
Autores principales: Kautsar, Ahmad, Wit, Jan M., Pulungan, Aman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878336/
https://www.ncbi.nlm.nih.gov/pubmed/30678423
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0305