SUN-245 Heterozygous GH1 p.R209H Variant within a Large Pedigree May Mimic a Growth Hormone Insensitivity Pattern

Isolated growth hormone deficiency (IGHD) is most frequently caused by mutations in the GH1 gene. Pathogenic mutations in the GHRHR and GHSR have also been reported to cause IGHD. Individuals with IGHD type II present with variable clinical phenotype. Autosomal dominant GH1 p.R209H variant impairs G...

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Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: Sanguineti, Nora, Scaglia, Paula, Braslavsky, Debora, Keselman, Ana, Ballerini, Maria, Ropelato, Maria, Suco, Sofia, Kitzman, Jacob, Vishnopolska, Sebastian, Marti, Marcelo, Domene, Horacio, Rey, Rodolfo, Perez-Millan, Maria, Camper, Sally, Bergadá, Ignacio
Formato: Artigo
Idioma:Inglês
Publicado: Endocrine Society 2019
Assuntos:
Pediatric Endocrinology
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6553300/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-245
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