Article
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds.
BMC musculoskeletal disorders - 30 Aug 2022
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
Abstract excerpt
BACKGROUND: Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3 has been reported in a small number of patients with recessively inherited spondyloepiphyseal dysplasia with joint dislocation, short stature and scoliosis. We report here molecular and clinical findings of affected individuals in three...
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