A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia

Clin Dysmorphol. 2022 Apr 1;31(2):98-100. doi: 10.1097/MCD.0000000000000409.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cerebellum / abnormalities
  • Developmental Disabilities
  • Genomics
  • Humans
  • Lipoproteins, LDL
  • Nervous System Malformations*
  • Siblings*

Substances

  • Lipoproteins, LDL

Supplementary concepts

  • Cerebellar Hypoplasia