• A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia
• A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia
• Analysis of CANT1 gene variant in a girl with Desbuquois dysplasia type I
• Antenatal Phenotype of Desbuquois Dysplasia
• Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification
• CANT1 deficiency in a mouse model of Desbuquois dysplasia impairs glycosaminoglycan synthesis and chondrocyte differentiation in growth plate cartilage
• Desbuquois dysplasia Kim variant: a rare case report syndrome
• Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings
• Endoplasmic reticulum retention of xylosyltransferase 1 (XYLT1) mutants underlying Desbuquois dysplasia type II
• Evaluation of polysomnography findings in children with genetic skeletal disorders
• Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency
• Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes
• Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report
• Phenotypic Characterization of Immortalized Chondrocytes from a Desbuquois Dysplasia Type 1 Mouse Model: A Tool for Studying Defects in Glycosaminoglycan Biosynthesis
• Posterior vertebral column resection for rigid proximal thoracic kyphoscoliosis with broken growing rods in a patient with Desbuquois dysplasia
• Prenatal diagnosis and postnatal outcome of fetal congenital knee dislocation: systematic review of literature
• Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs
• Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high-density SNP array to map homozygosity and identify the gene
• Xylosyltransferase I mediates the synthesis of proteoglycans with long glycosaminoglycan chains and controls chondrocyte hypertrophy and collagen fibers organization of in the growth plate