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
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
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
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