The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

PURPOSE: Truncating mutations in the maternally imprinted, paternally expressed gene MAGEL2, which is located in the Prader-Willi critical region 15q11-13, have recently been reported to cause Schaaf-Yang syndrome, a Prader-Willi-like disease, manifesting developmental delay/intellectual disability,...

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Detaylı Bibliyografya
Yayımlandı:Genet Med
Asıl Yazarlar: Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
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Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5116288/
https://ncbi.nlm.nih.gov/pubmed/27195816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2016.53
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