Homozygous RMRP Promoter Duplications Cause Severely Reduced Transcript Abundance and SCID Associated with Cartilage Hair Hypoplasia

J Clin Immunol. 2023 Aug;43(6):1139-1142. doi: 10.1007/s10875-023-01489-5. Epub 2023 Apr 28.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cartilage
  • Hair / abnormalities
  • Hirschsprung Disease* / genetics
  • Humans
  • Mutation
  • Osteochondrodysplasias* / congenital
  • Osteochondrodysplasias* / diagnosis
  • Osteochondrodysplasias* / genetics
  • Primary Immunodeficiency Diseases* / genetics
  • Promoter Regions, Genetic
  • RNA, Long Noncoding*

Substances

  • RNA, Long Noncoding

Supplementary concepts

  • Cartilage-hair hypoplasia

Grants and funding