Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation-Reference-Cited by-同舟云学术

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

Published:2019-01-10 Issue:3 Volume:7 Page:e549
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Salehi Karlslätt Karin¹²,Pettersson Maria³^ORCID,Jäntti Nina³⁴,Szafranski Przemyslaw⁵,Wester Tomas⁶⁷,Husberg Britt⁸,Ullberg Ulla⁹,Stankiewicz Pawel⁵,Nordgren Ann³⁴,Lundin Johanna³⁴^ORCID,Lindstrand Anna³⁴^ORCID,Nordenskjöld Agneta¹⁶

Affiliation:

1. Department of Women’s and Children’s Health and Center for Molecular Medicine; Karolinska Institutet; Stockholm Sweden

2. Department of Pediatrics; Karolinska University Hospital; Stockholm Sweden

3. Department of Molecular Medicine and Surgery and Center for Molecular Medicine; Karolinska Institutet; Stockholm Sweden

4. Department of Clinical Genetics; Karolinska University Hospital; Stockholm Sweden

5. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

6. Department of Pediatric Surgery; Karolinska University Hospital; Stockholm Sweden

7. Department of Women’s and Children’s Health; Karolinska Institutet; Stockholm Sweden

8. Department of General Surgery; Ersta Hospital; Stockholm Sweden

9. Department of Pediatric Radiology; Karolinska University Hospital; Stockholm Sweden

Funder

Sällskapet Barnavård

HRH Crown Princess Lovisa's Foundation

Vetenskapsrådet

Stockholms Läns Landsting

The Foundation Frimurarna

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.549/fullpdf

Reference45 articles.

1. Familial malrotation: Report of three affected siblings;Beaudoin;Pediatric Surgery International,2005

2. Duplication and deletion of CFC1 associated with heterotaxy syndrome;Cao;DNA and Cell Biology,2015

3. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q;Cody;American Journal of Medical Genetics,1999

4. Intestinal malrotation: The role of small intestinal dysmotility in the cause of persistent symptoms;Coombs;Journal of Pediatric Surgery,1991

5. Cilia in vertebrate left-right patterning;Dasgupta;Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences,2016

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