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...

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Detaylı Bibliyografya
Yayımlandı:J Endocr Soc
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2020
Konular:
Neuroendocrinology and Pituitary
Online Erişim: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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