Second‐trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray

Nager syndrome is a rare, complex malformation syndrome, for which there is limited information on prenatal genetic testing. Clinical diagnosis of Nager syndrome, which can be caused by deletions encompassing SF3B4 gene, is possible prenatally. Prenatal chromosomal microarray can aid genotype‐phenot...

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Detalles Bibliográficos
Autores principales: Drozniewska, Malgorzata, Kilby, Mark D., Vogt, Julie, Togneri, Fiona, Quinlan‐Jones, Elizabeth, Reali, Lisa, Allen, Stephanie, McMullan, Dominic
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069884/
https://www.ncbi.nlm.nih.gov/pubmed/32185046
http://dx.doi.org/10.1002/ccr3.2509

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