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

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

Abstract 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 dislocat...

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Main Authors: Mehran Kausar, Noor Ul Ain, Farzana Hayat, Hunain Fatima, Saad Azim, Hazrat Ullah, Murva Mushtaq, Sumbal Khalid, Shahid Hussain, Sadaf Naz, Jamal Janjua, Saad Bin Amjad, Ruqia Mehmood Baig, Outi Makitie, Raheel Qamar, Shiro Ikegawa, Nishimura Gen, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi
Format: Article
Language:English
Published: BMC 2022-08-01
Series:BMC Musculoskeletal Disorders
Subjects:
Spondyloepiphyseal dysplasia
Short stature
Chondroitin
CHST3
Pakistan
Online Access:https://doi.org/10.1186/s12891-022-05719-6

Internet

https://doi.org/10.1186/s12891-022-05719-6

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