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Prader-Willi and Angelman Syndromes: Mechanisms and Management

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are genetic imprinting disorders resulting from absent or reduced expression of paternal or maternal genes in chromosome 15q11q13 region, respectively. The most common etiology is deletion of the maternal or paternal 15q11q13 region. Methylation...

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Detalles Bibliográficos
Autores principales: Ma, Van K, Mao, Rong, Toth, Jessica N, Fulmer, Makenzie L, Egense, Alena S, Shankar, Suma P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10084876/
https://www.ncbi.nlm.nih.gov/pubmed/37051256
http://dx.doi.org/10.2147/TACG.S372708