Coffin-Siris syndrome with normal plasma biotinidase activity

Eur J Pediatr. 1991 Jul;150(9):687. doi: 10.1007/BF02072639.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / enzymology*
  • Alopecia / congenital
  • Alopecia / enzymology*
  • Amidohydrolases / deficiency
  • Amidohydrolases / metabolism*
  • Biotinidase
  • Child, Preschool
  • Female
  • Humans
  • Syndrome

Substances

  • Amidohydrolases
  • Biotinidase