A Novel Missense Variant in the CHST3 Underlies Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations. - Mughal TA; Asim M; Gillani SHUH; Chughtai NO; Batool SA; Hussain A; Shujaat K; Gilani SZT (Molecular syndromology, 2024)