Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

BACKGROUND: Pfeiffer syndrome (PS) is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor FGFR1 and FGFR2 genes, occurring in approximately 1:100,000 live births. PS has a wide range of clinical expression and severity, so early prenatal diagnosis is difficult and...

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Detalles Bibliográficos
Autores principales: Torres-Canchala, Laura, Castaño, Daniela, Silva, Nathalia, Gómez, Ana María, Victoria, Alejandro, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431167/
https://www.ncbi.nlm.nih.gov/pubmed/32848441
http://dx.doi.org/10.2147/TACG.S251581

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7431167/
https://www.ncbi.nlm.nih.gov/pubmed/32848441
http://dx.doi.org/10.2147/TACG.S251581

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