-
Article
Open AccessClinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13
Spondyloepimetaphyseal dysplasia with severe short stature, RPL13-related (SEMD-RPL13), MIM#618728), is a rare autosomal dominant disorder characterized by short stature and skeletal changes such as mild spondyla...
-
Article
Open AccessCorrection to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
An amendment to this paper has been published and can be accessed via the original article.
-
Article
Open AccessHigh prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study
Symptomatic spinal stenosis (SSS) is a well-known medical complication in achondroplasia. The reported prevalence of SSS is 10 to 30%, an estimate based on small studies or selected populations. No population-...
-
Article
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
Mutations of the SMARCB1 gene have been implicated in several human tumour predisposing syndromes. They have recently been identified as an underlying cause of the tumour suppressor syndrome schwannomatosis. Ther...
-
Article
Open AccessGermline PTEN mutations are rare and highly penetrant
Cowden syndrome (multiple hamartoma syndrome, MIM 158350) is an early onset syndrome characterized by multiple hamartomas in the skin, mucous membranes, breast, thyroid and endometrium. Patients with Cowden sy...
