Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)

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 characteris...

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Detalles Bibliográficos
Autores principales: Mizuno, Shinsuke, Yokoyama, Koji, Yokoyama, Atsushi, Nukata, Takayuki, Ikeda, Yuka, Hara, Shigeto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184671/
https://www.ncbi.nlm.nih.gov/pubmed/35343647
http://dx.doi.org/10.1002/mgg3.1932

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9184671/
https://www.ncbi.nlm.nih.gov/pubmed/35343647
http://dx.doi.org/10.1002/mgg3.1932

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