Disease: Arthrogryposis- distal- with hypopituitarism- mental retardation- and facial anomalies
- A nationwide survey of Schaaf-Yang syndrome in Japan
- Copeptin: Utility in Paediatric Patients with Hyponatraemia
- Genetic factors in isolated and syndromic laryngeal cleft
- Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf-Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)
- Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies
- Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs