Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Abstract Background Schaaf-Yang syndrome (SYS) is a newly recognized imprinting related syndrome, which is caused by a truncating variant in maternally imprinted MAGEL2 located in 15q11-q13. Yet, precise pathomechanism remains to be solved. We sequenced MAGEL2 in patients suspected Prader-Willi synd...

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Bibliographic Details
Main Authors: Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
Format: Article
Language:English
Published: BMC 2019-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
MAGEL2
Schaaf-Yang syndrome
Genomic imprinting
Neurological deterioration
Online Access:https://doi.org/10.1186/s13023-019-1249-4

Internet

https://doi.org/10.1186/s13023-019-1249-4

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