Small mosaic deletion encompassing the snoRNAs andSNURF-SNRPNresults in an atypical Prader-Willi syndrome phenotype-Reference-Cited by-同舟云学术

Small mosaic deletion encompassing the snoRNAs andSNURF-SNRPNresults in an atypical Prader-Willi syndrome phenotype

Published:2013-12-05 Issue:2 Volume:164 Page:425-431
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Anderlid Britt-Marie¹²,Lundin Johanna²,Malmgren Helena¹²,Lehtihet Mikael³,Nordgren Ann¹²

Affiliation:

1. Department of Molecular Medicine and Surgery, Clinal Genetic Unit, Centre of Molecular Medicine; Karolinska Institutet; Stockholm Sweden

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

3. Department of Medicine/Huddinge; Karolinska Institutet and Centre for Andrology and Sexual Medicine, Karolinska University Hospital; Stockholm Sweden

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36307/fullpdf

Reference30 articles.

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3. Mosaicism of proximal 15q duplication/deletion resulting in Prader-Willi syndrome with normal methylation;Boyd;Am J Med Genet Part A,2005

4. Epimutations in Prader-Willi and Angelman syndromes: A molecular study of 136 patients with an imprinting defect;Buiting;Am J Hum Genet,2003

5. Prader-Willi syndrome: Current understanding of cause and diagnosis;Butler;Am J Med Genet,1990

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