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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Publicat a:J Endocr Soc
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2019
Matèries:
Genetics and Development (including Gene Regulation)
Accés en línia: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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