Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10: A case report

Pediatr Blood Cancer. 2019 Jul;66(7):e27751. doi: 10.1002/pbc.27751. Epub 2019 Apr 12.
No abstract available

Publication types

  • Letter

MeSH terms

  • Base Sequence*
  • Child
  • Female
  • Genes, Recessive*
  • Genetic Diseases, Inborn* / diagnostic imaging
  • Genetic Diseases, Inborn* / genetics
  • Humans
  • Osteopetrosis* / congenital
  • Osteopetrosis* / diagnostic imaging
  • Sequence Deletion*
  • Sorting Nexins / genetics*

Substances

  • SNX10 protein, human
  • Sorting Nexins