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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...

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Autors principals: Trujillo-Tiebas, M. J., Fenollar-Cortés, M., Lorda-Sánchez, I., Díaz-Recasens, J., Carrillo Redondo, A., Ramos-Corrales, C., Ayuso, C.
Format: Artigo
Idioma:Inglês
Publicat: Springer US 2009
Matèries:
Accés en línia: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
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