Ontology highlight
ABSTRACT:
SUBMITTER: Nakaguma M
PROVIDER: S-EPMC6510710 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Nakaguma Marilena M Correa Fernanda A FA Santana Lucas S LS Benedetti Anna F F AFF Perez Ricardo V RV Huayllas Martha K P MKP Miras Mirta B MB Funari Mariana F A MFA Lerario Antonio M AM Mendonca Berenice B BB Carvalho Luciani R S LRS Jorge Alexander A L AAL Arnhold Ivo J P IJP
Endocrine connections 20190501 5
<h4>Aim</h4>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 order of genes to analyse. The objective of our study is to screen hypopituitarism genes (candidate and previously related genes) simultaneously using a target gene panel in patients with congeni ...[more]