A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation

Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In 2012, AFD1 has been associated with dominant...

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Detalles Bibliográficos
Main Authors: Castori, Marco, Bottillo, Irene, D'Angelantonio, Daniela, Morlino, Silvia, De Bernardo, Carmelilia, Scassellati Sforzolini, Giovanna, Silvestri, Evelina, Grammatico, Paola
Formato: Artigo
Idioma:Inglês
Publicado: S. Karger AG 2014
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4188155/
https://ncbi.nlm.nih.gov/pubmed/25337072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000365769
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