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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Publicat a:J Endocr Soc
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2019
Matèries:
Pediatric Endocrinology
Accés en línia: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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