A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family

Por Mehran Kausar, Mehran Kausar, Mehran Kausar, Elaine Guo Yan Chew, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Jia Nee Foo, Jia Nee Foo, Outi Makitie, Outi Makitie, Saima Siddiqi
Publicado em 2019-03-01

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

Por Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
Publicado em 2018-11-01