Disease: Epimetaphyseal skeletal dysplasia
- A "new" epi-metaphyseal skeletal dysplasia in four members of a family
- A boy with severe craniodiaphyseal dysplasia and apparently normal mother
- A disorder resembling pseudoachondroplasia but without COMP mutation
- A mouse model offers novel insights into the myopathy and tendinopathy often associated with pseudoachondroplasia and multiple epiphyseal dysplasia
- A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family
- Benign form of congenital angulation of long bones associated with shortening of soft tissues
- Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies
- Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
- Extreme Genu Recurvatum Deformity in a Pediatric Patient With Spondyloepiphyseal Dysplasia: Gradual Correction With Z-plates and Hexapod Frame
- Functional knockout of the matrilin-3 gene causes premature chondrocyte maturation to hypertrophy and increases bone mineral density and osteoarthritis
- Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosis
- Generalized metaphyseal modification with cone-shaped epiphyses following long-term administration of 13-cis-retinoic acid
- Induction of systemic bone changes by preconditioning total body irradiation for bone marrow transplantation
- Metatropic dysplasia. A rare skeletal anomaly (author's transl)
- Novel and recurrent <em>COMP</em> gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods
- Novel and recurrent COMP gene variants in five Japanese patients with pseudoachondroplasia: skeletal changes from the neonatal to infantile periods
- Skeletal development on fetal magnetic resonance imaging
- Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder
- Spondyloepimetaphyseal dysplasia. Case report
- The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function
- The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function