Projects

Human genetic studies

TBC1D24-related diseases (www.TBC1D24.org)
Genitopatellar syndrome (www.KAT6B.org)
GPI biosynthesis defects (www.GPIbiosynthesis.org)
DDOD syndrome
Yunis-Varon syndrome
Infantile myofibromatosis
Ehlers-Danlos type 3
SMD Sutcliffe-type
Other rare skeletal dysplasias
Canadian Skeletal Dysplasia Group (www.CanadianSDG.org)


Mouse studies

Fig4 gene
Tbc1d24 gene
Wnt1 gene