Disease: Epiphyseal dysplasia hearing loss dysmorphism
- A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa
- A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype
- A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis
- A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis
- Autosomal recessive otospondylo-mega-epiphyseal dysplasia: comprehensive clinical review of a pediatric cohort
- Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene
- Discovery of sensorineural hearing loss and ossicle deformity in a Chinese Li nationality family with spondyloepiphyseal dysplasia congenita caused by p.G504S mutation of COL2A1
- Ellis-van Creveld Syndrome
- Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome
- Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father
- New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the <em>NMNAT1</em> Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform
- Oto-spondylo-megaepiphyseal dysplasia
- Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel
- Short trunk stature, brachydactyly, and platyspondyly in three sibs: a new form of brachyolmia or a new skeletal dysplasia?
- Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness
- Targeted disruption of Col11a2 produces a mild cartilage phenotype in transgenic mice: comparison with the human disorder otospondylomegaepiphyseal dysplasia (OSMED)
- The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review
- Unique skeletal manifestations in patients with Primrose syndrome