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Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing on the characteristic phenotypical presentation, the examinator is able to diagnose the syndrome prenatally, which is of clinical importance t...

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Detalles Bibliográficos
Autores principales: Jeppesen, Bolette F., Hove, Hanne B., Kreiborg, Sven, Hermann, Nuno V., Darvann, Tron A., Jørgensen, Finn Stener
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494388/
https://www.ncbi.nlm.nih.gov/pubmed/28680597
http://dx.doi.org/10.1002/ccr3.784