Cargando…
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...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Mattioli 1885
2019
|
| Materias: | |
| 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 |