Disease: Short stature contractures hypotonia
- A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes
- A nationwide survey of Schaaf-Yang syndrome in Japan
- Additional case of Marden-Walker syndrome: support for the autosomal-recessive inheritance adn refinement of phenotype in a surviving patient
- Clinical variability in congenital fiber type disproportion
- Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies
- Orthopedic manifestations and implications for individuals with Costello syndrome
- Schaaf-Yang Syndrome