Disease: Multiple joint dislocations metaphyseal dysplasia
- <em>EXOC6B</em>-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity
- 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 new syndrome of multiple joint dislocations with metaphyseal dysplasia
- A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia
- A novel syndrome resembling Desbuquois dysplasia
- An emerging ribosomopathy affecting the skeleton due to biallelic variations in NEPRO
- Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
- Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
- Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance
- Shortening osteotomy for alloarthoplastic joint replacement for hip dislocation in adults
- Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?
- 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 multiple dislocations, leptodactylic type: report of a new patient and review of the literature