Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome

Lignende værker

• Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome–Related Phenotype
  af: Park, Arick C., et al.
  Udgivet: (2015)
• Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders
  af: Chesneau, Bertrand, et al.
  Udgivet: (2021)
• X–linked Recessive Inheritance in the Ehlers–Danlos Syndrome
  af: Beighton, P.
  Udgivet: (1968)
• Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II).
  af: Schwarze, U, et al.
  Udgivet: (2000)
• Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV
  af: Schwarze, Ulrike, et al.
  Udgivet: (2001)