Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

CONTEXT: Congenital hypopituitarism is a genetically heterogeneous condition. Whole exome sequencing (WES) is a promising approach for molecular diagnosis of patients with this condition. OBJECTIVES: The aim of this study is to conduct WES in a patient with congenital hypopituitarism born to consang...

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Detalles Bibliográficos
Autores principales: Ferreira, Nathalia G B P, Madeira, Joao L O, Gergics, Peter, Kertsz, Renata, Marques, Juliana M, Trigueiro, Nicholas S S, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna V, Fernandes, Bianca H V, Bissegatto, Debora D, Biscotto, Isabela P, Fang, Qing, Ma, Qianyi, Ozel, Asye B, Li, Jun, Camper, Sally A, Jorge, Alexander A L, Mendonça, Berenice B, Arnhold, Ivo J P, Carvalho, Luciani R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10388658/
https://www.ncbi.nlm.nih.gov/pubmed/37166408
http://dx.doi.org/10.1530/EC-22-0473

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