A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report

CONTEXT: IGSF1 deficiency is a recently discovered syndrome consisting of congenital central hypothyroidism (CeH) and macroorchidism. Here, we report on a patient presenting with short stature, who was found to carry a pathogenic mutation in the IGSF1 gene. CASE DESCRIPTION: A 14-year-old Israeli bo...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Heinen, Charlotte A., Zwaveling-Soonawala, Nitash, Fliers, Eric, Turgeon, Marc-Olivier, Bernard, Daniel J., van Trotsenburg, A.S. Paul
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2017
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5686658/
https://ncbi.nlm.nih.gov/pubmed/29264525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2017-00107
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