FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

The genetic aetiology of congenital hypopituitarism (CH) is not entirely elucidated. FGFR1 and PROKR2 loss-of-function mutations are classically involved in hypogonadotrophic hypogonadism (HH), however, due to the clinical and genetic overlap of HH and CH; these genes may also be involved in the pat...

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Detalles Bibliográficos
Autores principales: Correa, Fernanda A, Trarbach, Ericka B, Tusset, Cintia, Latronico, Ana Claudia, Montenegro, Luciana R, Carvalho, Luciani R, Franca, Marcela M, Otto, Aline P, Costalonga, Everlayny F, Brito, Vinicius N, Abreu, Ana Paula, Nishi, Mirian Y, Jorge, Alexander A L, Arnhold, Ivo J P, Sidis, Yisrael, Pitteloud, Nelly, Mendonca, Berenice B
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401104/
https://www.ncbi.nlm.nih.gov/pubmed/25759380
http://dx.doi.org/10.1530/EC-15-0015

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401104/
https://www.ncbi.nlm.nih.gov/pubmed/25759380
http://dx.doi.org/10.1530/EC-15-0015

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