A novel homozygous frameshift variant in XYLT2 causes spondyloocular syndrome in a consanguineous Pakistani family

by Kausar, Mehran, Chew, Elaine Guo Yan, Ullah, Hazrat, Anees, Mariam, Khor, Chiea Chuen, Foo, Jia Nee, Makitie, Outi, Siddiqi, Saima
Published 2019

Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

by Kausar, Mehran, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Makitie, Outi, Asif Mir, Khor, Chiea Chuen, Foo, Jia Nee, Anees, Mariam
Published 2019