Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update

BACKGROUND: Prader-Willi Syndrome (PWS) is a neurodevelopmental genomic imprinting disorder with lack of expression of genes inherited from the paternal chromosome 15q11-q13 region usually from paternal 15q11-q13 deletions (about 60%) or maternal uniparental disomy 15 or both 15s from the mother (ab...

Descripción completa

Detalles Bibliográficos
Autores principales: Butler, Merlin G., Miller, Jennifer L., Forster, Janice L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040524/
https://www.ncbi.nlm.nih.gov/pubmed/31333129
http://dx.doi.org/10.2174/1573396315666190716120925

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7040524/
https://www.ncbi.nlm.nih.gov/pubmed/31333129
http://dx.doi.org/10.2174/1573396315666190716120925

Ejemplares similares