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

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 syndrome (PW...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Negishi, Yutaka, Ieda, Daisuke, Hori, Ikumi, Nozaki, Yasuyuki, Yamagata, Takanori, Komaki, Hirofumi, Tohyama, Jun, Nagasaki, Keisuke, Tada, Hiroko, Saitoh, Shinji
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6888944/
https://ncbi.nlm.nih.gov/pubmed/31791363
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1249-4
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