Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds

por 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
Publicado 2022