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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Castori, Marco, Bottillo, Irene, D'Angelantonio, Daniela, Morlino, Silvia, De Bernardo, Carmelilia, Scassellati Sforzolini, Giovanna, Silvestri, Evelina, Grammatico, Paola
Format: Artigo
Jezik:Inglês
Izdano: S. Karger AG 2014
Teme:
Case Report
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki