• <em>EXOC6B</em>-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
• <em>MBTPS1</em>-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
• A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia
• Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature
• B3GALT6-linkeropathy: Three illustrative patients spanning the disease spectrum
• Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
• Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia
• Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy
• Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)
• Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
• Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient
• Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro
• Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases
• EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
• Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families
• Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia
• Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2
• Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment
• IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
• KIF22 regulates mitosis and proliferation of chondrocyte cells
• MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes
• Multi-gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias
• NANS-CDG: Expanding clinical insights with a novel patient with novel variants
• New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report
• Novel <em>LOXL3</em>-associated stickler syndrome-like phenotype: a case report
• Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology
• Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
• Shohat type-spondyloepimetaphyseal dysplasia: Further phenotypic delineation
• Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man
• Syndromic growth retardation caused by impaired function of the ribosomal protein eL13
• Two sisters with RSPRY1-related spondyloepimetaphyseal dysplasia
• Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco