SUN-034 Genetic Diagnosis of Congenital Isolated or Combined Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling. Objective: to conduct a prospective molecular-genetic analy...

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Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: NAKAGUMA, MARILENA, Correa, Fernanda, Santana, Lucas, Figueredo Benedetti, Anna, Perez, Ricardo, Huayllas, Martha, Miras, Mirta, Funari, Mariana, Antonio, Lerario, Mendonca, Berenice, Carvalho, Luciani, Jorge, Alexander, Arnhold, Ivo
Formato: Artigo
Idioma:Inglês
Publicado: Endocrine Society 2019
Assuntos:
Genetics and Development (including Gene Regulation)
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6552713/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-SUN-034
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