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Article

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

American journal of medical genetics. Part A - 1 Aug 2023

Otaify Ghada A, Elhossini Rasha M, Abdel-Ghafar Sherif F, Sayed Inas M, Abdel-Salam Ghada M H, Aglan Mona S, Abdel-Hamid Mohamed S

Abstract excerpt

Biallelic variants in CHST3 gene result in congenital dislocation of large joints, club feet, short stature, rhizomelia, kypho-scoliosis, platyspondyly, epiphyseal dysplasia, flared metaphysis, in addition to minor cardiac lesions and hearing loss. Herein, we describe 14 new patients from 11 unrelated Egyptian families with CHST3-related skeletal dysplasia. All patients had spondyloepiphyseal changes that were...

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PMID: 37183573
DOI: 10.1002/ajmg.a.63246

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