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Cystic fibrosis and Silver-Russell syndrome due to a partial maternal isodisomy of chromosome 7

  • Published:2017-09-08 Issue:10 Volume:5 Page:1697-1700
  • ISSN:2050-0904
  • Container-title:Clinical Case Reports
  • language:en
  • Short-container-title:Clin Case Rep

Author:

Gerbrands Lonneke C.1,Haarman Eric G.1,Hankel Margot A.2,Finken Martijn J. J.1ORCID

Affiliation:

1. Department of Pediatrics; VU University Medical Center; Amsterdam The Netherlands

2. Department of Clinical Genetics; VU University Medical Center; Amsterdam The Netherlands

Publisher

Wiley

Subject

General Medicine

Reference12 articles.

1. Silver-Russel syndrome;Wakeling;Arch. Dis. Child.,2011

2. Epigenetics in Silver-Russell syndrome;Rossignol;Best Pract. Res. Clin. Endocrinol. Metab.,2008

3. Silver-Russell dwarfism and cystic fibrosis in a twin;Taussig;Am. J. Dis. Child.,1973

4. Uniparental disomy as a mechanism for human genetic disease;Spence;Am. J. Hum. Genet.,1998

5. Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?;Voss;Am. J. Hum. Genet.,1989

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