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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Orphanet J Rare Dis
Main Authors: 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
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker