Associated Papers
A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia.
Holling T et al.
Journal of Human Genetics, 2024
39085459 (PubMed )
Supplement: 10038_2024_1279_MOESM1_ESM.docx
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E et al.
American Journal of Medical Genetics. Part A, 2016
Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation.
Schlotawa L et al.
Journal of Neurology, 2013
A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion.
Ali BR et al.
Bmc Medical Genetics, 2012
Re-evaluation of the dysequilibrium syndrome.
Melberg A et al.
Acta Neurologica Scandinavica, 2011
Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome).
Boycott KM et al.
Journal of Child Neurology, 2009
CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait.
Türkmen S et al.
Plos Genetics, 2009
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.
Türkmen S et al.
European Journal of Human Genetics : Ejhg, 2008
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.
Moheb LA et al.
European Journal of Human Genetics : Ejhg, 2008
Select a paper to view details