Article
The adult phenotype of Schaaf-Yang syndrome.
Orphanet journal of rare diseases - 19 Oct 2020
Marbach Felix, Elgizouli Magdeldin, Rech Megan, Beygo Jasmin, Erger Florian, Velmans Clara, Stumpel Constance T R M, Stegmann Alexander P A, Beck-Wödl Stefanie, Gillessen-Kaesbach Gabriele, Horsthemke Bernhard, Schaaf Christian P, Kuechler Alma
Abstract excerpt
BACKGROUND: MAGEL2-associated Schaaf-Yang syndrome (SHFYNG, OMIM #615547, ORPHA: 398069), which was identified in 2013, is a rare disorder caused by truncating variants of the paternal copy of MAGEL2, which is localized in the imprinted region on 15q11.2q13. The phenotype of SHFYNG in childhood partially overlaps with that of the well-established Prader-Willi syndrome (PWS, OMIM #176270). While larger numbers of...
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