Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features

BACKGROUND: Loss of expression of imprinted genes in the 15q11.2-q13 region is known to cause either Prader-Willi syndrome (PWS) or Angelman syndrome (AS), depending on the parent of origin. In some patients (1 % in PWS and 2–4 % in AS), the disease is due to aberrant imprinting or gene silencing, o...

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Detalles Bibliográficos
Autores principales: Aypar, Umut, Hoppman, Nicole L., Thorland, Erik C., Dawson, D. Brian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802915/
https://www.ncbi.nlm.nih.gov/pubmed/27006693
http://dx.doi.org/10.1186/s13039-016-0233-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802915/
https://www.ncbi.nlm.nih.gov/pubmed/27006693
http://dx.doi.org/10.1186/s13039-016-0233-0

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