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Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15

  • Published:2015-04-21 Issue:8 Volume:167 Page:1944-1948
  • ISSN:1552-4825
  • Container-title:American Journal of Medical Genetics Part A
  • language:en
  • Short-container-title:Am. J. Med. Genet.

Author:

Regier Debra S.1,Leon Eyby2,Counts Debra R.3,Tifft Cynthia J.1,Zand Dina J.2

Affiliation:

1. National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

2. Division of Genetics and Metabolism; Children's National Medical Center; Washington, DC

3. Department of Pediatrics; University of Maryland Medical Center; Baltimore Maryland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. A mutation common in non-Jewish Tay-Sachs disease: Frequency and RNA studies;Akerman;Hum Mut,1992

2. Natural history of infantile G(M2) gangliosidosis;Bley;Pediatrics,2011

3. Endocrine manifestations and management of Prader-Willi syndrome;Emerick;Int J Pediatr Endocrinol,2013

4. Standards for selected anthropometric measurements in Prader-Willi syndrome;Butler;Pediatrics,1991

5. The neuroanatomy of genetic subtype differences in Prader-Willi syndrome;Honea;Am J Med Genet B,2012

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