Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

Context: Congenital hypopituitarism is a genetically heterogeneous cond ition. Whole exome sequencing (WES) is a promising approach for molecular di agnosis of patients with this condition. Objectives: The aim of this study is to conduct WES in a patient with cong enital hypopituitarism born to co...

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Bibliographic Details
Main Authors: Nathalia G B P Ferreira, Joao L O Madeira, Peter Gergics, Renata Kertsz, Juliana M Marques, Nicholas S S Trigueiro, Anna Flavia Figueredo Benedetti, Bruna V Azevedo, Bianca H V Fernandes, Debora D Bissegatto, Isabela P Biscotto, Qing Fang, Qianyi Ma, Asye B Ozel, Jun Li, Sally A Camper, Alexander A L Jorge, Berenice B Mendonça, Ivo J P Arnhold, Luciani R Carvalho
Format: Article
Language:English
Published: Bioscientifica 2023-07-01
Series:Endocrine Connections
Subjects:
whole exome sequencing
cell adhesion
growth insufficiency
cdh2
Online Access:https://ec.bioscientifica.com/view/journals/ec/12/8/EC-22-0473.xml

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https://ec.bioscientifica.com/view/journals/ec/12/8/EC-22-0473.xml

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