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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...
Autores principales: | Ramsden, Simon C, Clayton-Smith, Jill, Birch, Rachael, Buiting, Karin |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
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Materias: | |
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 |
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