Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
CHST3基因的双等位基因变异导致巴基斯坦三个家族出现脊椎骨骺发育不良伴关节脱位。
期刊:BMC Musculoskeletal Disorders
影响因子:2.4
doi:10.1186/s12891-022-05719-6
Kausar, Mehran; Ain, Noor Ul; Hayat, Farzana; Fatima, Hunain; Azim, Saad; Ullah, Hazrat; Mushtaq, Murva; Khalid, Sumbal; Hussain, Shahid; Naz, Sadaf; Janjua, Jamal; Amjad, Saad Bin; Baig, Ruqia Mehmood; Makitie, Outi; Qamar, Raheel; Ikegawa, Shiro; Gen, Nishimura; Khor, Chiea Chuen; Foo, Jia Nee; Siddiqi, Saima
