VLDLR Protein, Mouse, Recombinant (His)

Description: VLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures.VLDLR-CH is inherited in an autosomal recessive manner. Carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible when the pathogenic variants in a family are known. References: Boycott KM, et al. VLDLR Cerebellar Hypoplasia. 2008 Aug 26 [updated 2020 Feb 27]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle, 1993â?"202PMID: 20301729.