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...

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Опубликовано в: :Orphanet J Rare Dis
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2020
Предметы:
Research
Online-ссылка: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
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