SAT-LB58 Molecular Investigation of Recessive Inheritance by Exome Sequencing of Patients With Congenital Hypopituitarism

Background: Growth hormone deficiency (GHD) occurs in ~ 1/8000 individuals, and 14% of the patients have mutations in five major candidate genes. However, over 30 genes have been implicated in hypopituitarism. WES (Whole Exome Sequencing) is a promising approach for molecular diagnosis of patients w...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Endocr Soc
Prif Awduron: Pereira Ferreira, Nathalia Garcia Bianchi, Madeira, Joao Luiz do Oliveira, Kertsz, Renata, Gergics, Peter, Benedetti, Anna Flavia Figueredo, Biscotto, Isabela Peixoto, Fang, Qing, Ma, Qianyi, Ozel, Bilge Ayse, Li, Jun, Camper, Sally Ann, Jorge, Alexander Augusto Lima, Mendonca, Berenice Bilharinho, Arnhold, Ivo J, Carvalho, Luciani Renata Silveira
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Oxford University Press 2020
Pynciau:
Neuroendocrinology and Pituitary
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208499/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1986
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