A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.

Ítems similars

• Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.
  per: Dembure, P P, et al.
  Publicat: (1984)
• Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.
  per: Pousi, B., et al.
  Publicat: (1994)
• Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.
  per: Heikkinen, J, et al.
  Publicat: (1997)
• Congenital Chylous Ascites and Ehlers-Danlos Syndrome Type VI
  per: Ermarth, Anna K., et al.
  Publicat: (2016)
• Ehlers–Danlos syndrome
  per: Armstrong, Valerie
  Publicat: (1994)