Skip to main content

1 Result(s)

within Yutaka Negishi Remove this filter Medicine/Public Health, general Remove this filter

and

  1. Article

    Open Access

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

    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...

    Yutaka Negishi, Daisuke Ieda, Ikumi Hori… in Orphanet Journal of Rare Diseases (2019)

    Download PDF (991 KB) View Article