Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations-Reference-Cited by-同舟云学术

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

Published:2019-12-14 Issue:2 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Winberg Johanna¹²^ORCID,Gustavsson Peter¹²,Sahlin Ellika¹²,Larsson Magnus³⁴,Ehrén Henrik³⁴,Fossum Magdalena³⁴,Wester Tomas³⁴,Nordgren Ann¹²,Nordenskjöld Agneta³⁴

Affiliation:

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

2. Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden

3. Pediatric Surgery Astrid Lindgren Children's Hospital Karolinska University Hospital Stockholm Sweden

4. Department of Woman and Child Health and Center for Molecular Medicine Karolinska Institutet Stockholm Sweden

Funder

Vetenskapsrådet

Kommunfullmäktige, Stockholms Stad

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1084

Reference31 articles.

1. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)

2. A genomic view of mosaicism and human disease

3. Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

4. Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

5. Copy-number variation associated with congenital anomalies of the kidney and urinary tract

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