The adult phenotype of Schaaf-Yang syndrome

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 part...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Orphanet J Rare Dis
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2020
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7574436/
https://ncbi.nlm.nih.gov/pubmed/33076953
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01557-8
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars