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

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, sho...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426025/
https://www.ncbi.nlm.nih.gov/pubmed/36042462
http://dx.doi.org/10.1186/s12891-022-05719-6

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