First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing-Reference-Cited by-同舟云学术

First-trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing

Published:2014-10-27 Issue:6 Volume:44 Page:719-721
ISSN:0960-7692
Container-title:Ultrasound in Obstetrics & Gynecology
language:en
Short-container-title:Ultrasound Obstet Gynecol

Author:

Jones D.¹,Fiozzo F.¹,Waters B.²,McKnight D.³,Brown S.¹

Affiliation:

1. Department of Obstetrics, Gynecology and Reproductive Sciences; University of Vermont; Burlington VT USA

2. Department of Pathology; University of Vermont; Burlington VT USA

3. GeneDx Inc; Gaithersburg MD USA

Publisher

Wiley

Subject

Obstetrics and Gynaecology,Radiology Nuclear Medicine and imaging,Reproductive Medicine,General Medicine,Radiological and Ultrasound Technology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/uog.13381/fullpdf

Reference10 articles.

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2. Spectrum of anomalies in the Meckel syndrome, or: ‘Maybe there is a malformation syndrome with at least one constant anomaly’;Fraser;Am J Med Gen,1981

3. Ciliopathies;Hildebrandt;N Engl J Med,2011

4. Early diagnosis of severe congenital malformations by ultrasonography;Schmidt;J Perinat Med,1982

5. Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome;Eckmann-Scholz;Arch Gynecol Obstet,2012

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