A novel de-novo WNT5A mutation in a Chinese patient with Robinow syndrome.
aFetal Medicine Unit & Prenatal Diagnosis Centre Departments of bRadiology cGynecology, Shanghai First Maternity and Infant hospital, Tongji University School of Medicine, Shanghai, People's Republic of China dDepartment of Obstetrics and Gynecology, The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital eDepartment of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada fDepartment of Medical Genomics, Royal Prince Alfred Hospital gDiscipline of Genetic Medicine and Centre for China Studies, University of Sydney, Sydney, New South Wales, Australia.
Shiyi
S
Xiong
David
D
Chitayat
Xing
X
Wei
Jialiang
J
Zhu
Wen
W
Lu
Lu Ming
LM
Sun
Maya
M
Chopra
D000483:Alleles; D002675:Child, Preschool; D002681:China; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics*; D019066:Facies; D005260:Female; D005838:Genotype; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D014564:Urogenital Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D000071818:Wnt-5a Protein / Q000235:genetics*
D000071818:Wnt-5a Protein