Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes.

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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Bibliographic Details
Main Authors: Daisuke Ieda, Yutaka Negishi, Tomomi Miyamoto, Yoshikazu Johmura, Natsuko Kumamoto, Kohji Kato, Ichiro Miyoshi, Makoto Nakanishi, Shinya Ugawa, Hisashi Oishi, Shinji Saitoh
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0237814

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https://doi.org/10.1371/journal.pone.0237814

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