Disease: Spondyloepimetaphyseal dysplasia joint laxity
- <em>EXOC6B</em>-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
- A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations
- A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients
- A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations
- A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome
- A missense mutation in DDRGK1 gene associated to Shohat-type spondyloepimetaphyseal dysplasia: Two case reports and a review of literature
- A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea
- A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
- Atlantoaxial Instability Treated with Posterior Atlantoaxial Fixation in Two Siblings with Dyggve-Melchior-Clausen Syndrome
- 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
- Brain imaging findings in Liberfarb syndrome: hypomyelination and optic nerve and cerebellar atrophy
- Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes
- Clinical and genetic analysis of a child with spondyloepimetaphyseal dysplasia type 1 and joint laxity
- Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type
- Coxa vara in chondrodysplasia: prognosis study of 35 hips in 19 children
- Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community
- Early insights into the role of Exoc6B associated with spondyloepimetaphyseal dysplasia with joint laxity type 3 in primary ciliogenesis and chondrogenic differentiation in vitro
- EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
- Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype
- Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment
- Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel <em>B3GALT6</em> mutations
- KIF22 regulates mitosis and proliferation of chondrocyte cells
- Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders
- Mutations in Biosynthetic Enzymes for the Protein Linker Region of Chondroitin/Dermatan/Heparan Sulfate Cause Skeletal and Skin Dysplasias
- New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi origin
- New genetic mutations in a Chinese child with Ehlers-Danlos syndrome-like spondyloepimetaphyseal dysplasia: A case report
- Orthopaedic manifestations and management of spondyloepimetaphyseal dysplasia Strudwick type
- Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders
- Patients with musculoskeletal dysplasia undergoing total joint arthroplasty are at increased risk of surgical site Infection
- Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance
- Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases
- Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity
- Rough endoplasmic reticulum abnormalities in a patient with spondyloepimetaphyseal dysplasia with scoliosis, joint laxity, and finger deformities
- Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<em>B4GALT7</em> and Spondylodysplastic-EDS-<em>B3GALT6</em>
- Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6
- Spondylo-epi-metaphyseal dysplasia
- Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis
- Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl
- Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder
- Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?
- Spondyloepimetaphyseal dysplasia (SEMD) Shohat type
- Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families
- Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder
- Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
- Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)
- Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates
- Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case
- Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): clinical and radiological findings in a Guatemalan patient
- Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States
- Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: clinical course and phenotypic variations in four patients
- Spondyloepimetaphyseal dysplasia with joint laxity type 2: Aggregating the literature and reporting on the life of a 66-year-old man
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type: longitudinal observation of radiographic findings in a child heterozygous for a KIF22 mutation
- Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type: report of a new patient and review of the literature
- Spondyloepimetaphyseal dysplasia-joint laxity
- Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with <em>B3GALT6</em> Mutations
- Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations
- The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa
- The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity
- Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity
- Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type