Article
Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2).
Molecular genetics & genomic medicine - 1 Jun 2022
Mizuno Shinsuke, Yokoyama Koji, Yokoyama Atsushi, Nukata Takayuki, Ikeda Yuka, Hara Shigeto
Abstract excerpt
BACKGROUND: Schaaf-Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein-coding genes within the Prader-Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures and autism. Patients with PWS show abnormal...
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