Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?

J Inherit Metab Dis. 2015 Mar;38(2):365-6. doi: 10.1007/s10545-014-9791-7. Epub 2014 Nov 12.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Carrier Proteins / genetics*
  • Genetic Predisposition to Disease
  • Homocystinuria / diagnosis
  • Homocystinuria / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Oxidoreductases
  • Phenotype
  • Poland Syndrome / diagnosis
  • Poland Syndrome / genetics*
  • Sequence Deletion*
  • Vitamin B 12 Deficiency / congenital*
  • Vitamin B 12 Deficiency / diagnosis
  • Vitamin B 12 Deficiency / genetics

Substances

  • Carrier Proteins
  • MMACHC protein, human
  • Oxidoreductases

Supplementary concepts

  • Methylmalonic acidemia with homocystinuria