Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1. We describe for the first time two cases in which KS was suspected during fetal life because of the family context and malformation detectio...

Descripción completa

Detalles Bibliográficos
Autores principales: Sarfati, Julie, Bouvattier, Claire, Bry-Gauillard, Hélène, Cartes, Alejandra, Bouligand, Jérôme, Young, Jacques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469106/
https://www.ncbi.nlm.nih.gov/pubmed/26051373
http://dx.doi.org/10.1186/s13023-015-0287-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4469106/
https://www.ncbi.nlm.nih.gov/pubmed/26051373
http://dx.doi.org/10.1186/s13023-015-0287-9

Ejemplares similares