Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental genetic disorders that map to 15q11-q13. The primary phenotypes are attributable to loss of expression of imprinted genes within this region which can arise by means of a number of mechanism...

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Detalles Bibliográficos
Autores principales: Ramsden, Simon C, Clayton-Smith, Jill, Birch, Rachael, Buiting, Karin
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877670/
https://www.ncbi.nlm.nih.gov/pubmed/20459762
http://dx.doi.org/10.1186/1471-2350-11-70

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877670/
https://www.ncbi.nlm.nih.gov/pubmed/20459762
http://dx.doi.org/10.1186/1471-2350-11-70

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