A case of Kallmann syndrome associated to a novel missense mutation of the FGFR1 gene

Background: Loss-of-function mutations of fibroblast growth factor receptor 1 gene (FGFR1) have been reported so far. These mutations have been described in the extracellular domain, consisting of three Ig-like domains in the single transmembrane helix and in the intracellular region, containing a t...

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Detalles Bibliográficos
Autores principales: Scavone, Maria, Chiarello, Paola, Talarico, Valentina, Mascaro, Italia, Caglioti, Claudia, Galati, Maria Concetta, Raiola, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mattioli 1885 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7233765/
https://www.ncbi.nlm.nih.gov/pubmed/31910188
http://dx.doi.org/10.23750/abm.v90i4.7170

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7233765/
https://www.ncbi.nlm.nih.gov/pubmed/31910188
http://dx.doi.org/10.23750/abm.v90i4.7170

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