The adult phenotype of Schaaf-Yang syndrome

Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wodl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, Alma Kuechler*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

2 Citations (Web of Science)
Original languageEnglish
Article number294
Number of pages11
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - 19 Oct 2020


  • Schaaf-Yang syndrome
  • Prader-Willi syndrome
  • MAGEL2
  • Adult phenotype

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