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

Michael D. Fountain, Emmelien Aten, Megan T. Cho, Jane Juusola, Magdalena A. Walkiewicz, Joseph W. Ray, Fan Xia, Yaping Yang, Brett H. Graham, Carlos A. Bacino, Lorraine Potocki, Arie van Haeringen, Claudia A. L. Ruivenkamp, Pedro Mancias, Hope Northrup, Mary K. Kukolich, Marjan M. Weiss, Conny M. A. van Ravenswaaij-Arts, Inge B. Mathijssen, Sebastien LevesqueNaomi Meeks, Jill A. Rosenfeld, Danielle Lemke, Ada Hamosh, Suzanne K. Lewis, Simone Race, Laura L. Stewart, Beverly Hay, Andrea M. Lewis, Rita L. Guerreiro, Jose T. Bras, Marcia P. Martins, Gerarda Derksen-Lubsen, Els Peeters, Connie Stumpel, Sander Stegmann, Levinus A. Bok, Gijs W. E. Santen, Christian P. Schaaf

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)45-52
Number of pages8
JournalGenetics in Medicine
Volume19
Issue number1
DOIs
Publication statusPublished - Jan 2017

Keywords

  • MAGEL2
  • neurodevelopment
  • Prader-Willi syndrome
  • Schaaf-Yang syndrome
  • PRADER-WILLI-SYNDROME
  • TRUNCATING MUTATIONS
  • FETAL PHENOTYPE
  • AUTISM
  • GENE

Cite this

Fountain, M. D., Aten, E., Cho, M. T., Juusola, J., Walkiewicz, M. A., Ray, J. W., Xia, F., Yang, Y., Graham, B. H., Bacino, C. A., Potocki, L., van Haeringen, A., Ruivenkamp, C. A. L., Mancias, P., Northrup, H., Kukolich, M. K., Weiss, M. M., van Ravenswaaij-Arts, C. M. A., Mathijssen, I. B., ... Schaaf, C. P. (2017). The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genetics in Medicine, 19(1), 45-52. https://doi.org/10.1038/gim.2016.53