Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis-Reference-Cited by-同舟云学术

Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis

Published:2019-03-05 Issue:5 Volume:179 Page:813-816
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bourque Danielle K.¹^ORCID,Cloutier Mireille¹,Kernohan Kristin D.²,Bareke Eric³⁴,Grynspan David⁵,Michaud Jean⁵,Boycott Kym M.¹²^ORCID,

Affiliation:

1. Regional Genetics Program, CHEO; University of Ottawa; Ottawa Ontario Canada

2. CHEO Research Institute; University of Ottawa; Ottawa Ontario Canada

3. Department of Human Genetics; McGill University; Montreal Québec Canada

4. McGill University and Genome Quebec Innovation Centre; Montreal Québec Canada

5. Department of Pathology and Laboratory Medicine; CHEO, University of Ottawa; Ottawa Ontario Canada

Funder

Canadian Institutes of Health Research

Children's Hospital of Eastern Ontario Foundation

Genome Alberta

Genome British Columbia

Genome Canada

Genome Quebec

Ontario Genomics Institute

Ontario Research Fund

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.61076/fullpdf

Reference19 articles.

1. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the l-serine biosynthesis pathway;Acuna-Hidalgo;American Journal of Human Genetics,2014

2. A spectrum of phenotypical expression of Neu-Laxova syndrome: Three case reports and a review of the literature;Coto-Puckett;Fetal and Pediatric Pathology,2010

3. Early second trimester prenatal diagnosis of Neu-Laxova syndrome;Driggers;Prenatal Diagnosis,2002

4. A further example of a lethal autosomal recessive condition in sibs;Laxova;Journal of Intellectual Disability Research,1972

5. Fast and accurate short read alignment with Burrows-Wheeler transform;Li;Bioinformatics,2009

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