Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

Aim: Congenital hypopituitarism has an incidence of 1:3500–10,000 births and is defined by the impaired production of pituitary hormones. Early diagnosis has an impact on management and genetic counselling. The clinical and genetic heterogeneity of hypopituitarism poses difficulties to select the or...

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Main Authors: Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge, Ivo J P Arnhold
Format: Article
Language:English
Published: Bioscientifica 2019-05-01
Series:Endocrine Connections
Subjects:
congenital hypopituitarism
growth hormone deficiency
mutations
massively parallel sequencing
high-throughput nucleotide sequencing
target gene panel
Online Access:https://ec.bioscientifica.com/view/journals/ec/8/5/EC-19-0085.xml

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