Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes

Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternal allele of MAGEL2, located in the Prader-Willi critical region, 15q11-q13. Although the phenotypes of SYS overlap those of Prader-Willi syndrome (PWS), including neonatal hypotonia, feeding probl...

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Detalles Bibliográficos
Autores principales: Ieda, Daisuke, Negishi, Yutaka, Miyamoto, Tomomi, Johmura, Yoshikazu, Kumamoto, Natsuko, Kato, Kohji, Miyoshi, Ichiro, Nakanishi, Makoto, Ugawa, Shinya, Oishi, Hisashi, Saitoh, Shinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430741/
https://www.ncbi.nlm.nih.gov/pubmed/32804975
http://dx.doi.org/10.1371/journal.pone.0237814

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430741/
https://www.ncbi.nlm.nih.gov/pubmed/32804975
http://dx.doi.org/10.1371/journal.pone.0237814

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