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3 resultsUpdated October 25, 2026
1

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Journal of Medical Genetics 60(4) (2023)

Laura Castilla-Vallmanya; Mónica Centeno-Pla; Mercedes Serrano; Héctor Franco-Valls; Raúl Martínez-Cabrera; Aina Prat-Planas; Elena Rojano; Juan A G Ranea; Pedro Seoane; Clara Oliva; Abraham J Paredes-Fuentes; Gemma Marfany; Rafael Artuch; Daniel Grinberg; Raquel Rabionet; Susanna Balcells; Roser Urreizti

2

Case Report: Schaaf-Yang Syndrome Milder Phenotype Due to Potential Pathogenic Novel Missense Variant as an Unusual Cause of Obesity in a Pediatric Patient

The Application of Clinical Genetics Volume 19 (2026)

Dalibor Pastucha; Darina Aleksijevic; Jiri Hyjanek; Ondrej Vesely; Eva Klaskova; Kristyna Kolarikova; Radek Vodicka

3

Schaaf-Yang Syndrome: A Real Challenge for Prenatal Diagnosis

Cureus (2021)

Sara Nunes; Marta Xavier; Cátia Lourenço; Mónica Melo; Cristina Godinho