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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Udgivet i:Clin Case Rep
Main Authors: Jeppesen, Bolette F., Hove, Hanne B., Kreiborg, Sven, Hermann, Nuno V., Darvann, Tron A., Jørgensen, Finn Stener
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5494388/
https://ncbi.nlm.nih.gov/pubmed/28680597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.784
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