TY  - JOUR
AU  - Castilla-Vallmanya, Laura
AU  - Centeno-Pla, Mónica
AU  - Serrano, Mercedes
AU  - Franco-Valls, Héctor
AU  - Martínez-Cabrera, Raúl
AU  - Prat-Planas, Aina
AU  - Rojano, Elena
AU  - Ranea, Juan A G
AU  - Seoane, Pedro
AU  - Oliva, Clara
AU  - Paredes-Fuentes, Abraham J
AU  - Marfany, Gemma
AU  - Artuch, Rafael
AU  - Grinberg, Daniel
AU  - Rabionet, Raquel
AU  - Balcells, Susanna
AU  - Urreizti, Roser
PY  - 2022
DO  - 10.1136/jmg-2022-108690
UR  - http://hdl.handle.net/10668/20161
T2  - Journal of medical genetics
AB  - Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transport and...
LA  - en
KW  - central nervous system diseases
KW  - clinical genetics
KW  - disease management
KW  - gene expression
KW  - nervous system diseases
KW  - Humans
KW  - Prader-Willi Syndrome
KW  - Phenotype
KW  - Mutation
KW  - Proteins
KW  - Biomarkers
TI  - Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
TY  - research article
VL  - 60
ER  -