Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

Lignende værker

• Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
  af: van den Elzen, M, et al.
  Udgivet: (2014)
• Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
  af: Van Den Elzen, M, et al.
  Udgivet: (2014)
• Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
  af: Vasudevan, P, et al.
  Udgivet: (2006)
• The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
  af: Twigg, SR, et al.
  Udgivet: (2006)
• Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice.
  af: Babbs, C, et al.
  Udgivet: (2011)