The chondrodysplasia with congenital joint dislocations, CHST3 type, which was
distinguished by predominantly contractures, marked vertebral changes, and normal facial …

CHST3‐related chondrodysplasia with congenital joint dislocations (CDCJD,# MIM 143095),
is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3 …

Background Carbohydrate sulfotransferase 11 (CHST11) is a membrane protein of Golgi
that catalyses the transfer of sulfate to position 4 of the N-acetylgalactosamine residues of …

Biallelic variants in CHST3 gene result in congenital dislocation of large joints, club feet,
short stature, rhizomelia, kypho‐scoliosis, platyspondyly, epiphyseal dysplasia, flared …

Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD) is a rare
autosomal recessive disease caused by mutations in the gene carbohydrate …

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin‐6‐
sulfotranferase) has been associated with a phenotype of severe chondrodysplasia and …

Purpose We reported a case with carbohydrate sulfotransferase 3 (CHST3)
spondyloepiphyseal dysplasia and made a systematic review of all previously reported …

Musculocontractural Ehlers‐Danlos syndrome caused by mutations in CHST14 (mcEDS‐
CHST14) is a recently delineated disorder, characterized by craniofacial, skeletal, visceral …

A girl aged 11 years and 7 months was referred to our medical genetics department with a
provisional diagnosis of a skeletal dysplasia. She was born with joint dislocations in both …

Background Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal
dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3 has been …