Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene

PURPOSE: Prenatal diagnosis with ultrasound findings compatible with skeletal dysplasia due to FGFR3 mutations over a 9 year period in pregnancies and abortuses. METHODS: 54 samples were studied. Aneuploidy studies were carried out on all samples. By sequencing analysis, we determined mutations for...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: Trujillo-Tiebas, M. J., Fenollar-Cortés, M., Lorda-Sánchez, I., Díaz-Recasens, J., Carrillo Redondo, A., Ramos-Corrales, C., Ayuso, C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer US 2009
Soggetti:
Genetics
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2767486/
https://ncbi.nlm.nih.gov/pubmed/19789973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10815-009-9339-1
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi