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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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Principais autores: Yutaka Negishi, Daisuke Ieda, Ikumi Hori, Yasuyuki Nozaki, Takanori Yamagata, Hirofumi Komaki, Jun Tohyama, Keisuke Nagasaki, Hiroko Tada, Shinji Saitoh
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2019-12-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
MAGEL2
Schaaf-Yang syndrome
Genomic imprinting
Neurological deterioration
Acesso em linha:https://doi.org/10.1186/s13023-019-1249-4
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