Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

Antzeko izenburuak

• Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
  nork: van den Elzen, M, et al.
  Argitaratua: (2014)
• Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.
  nork: Vasudevan, P, et al.
  Argitaratua: (2006)
• The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.
  nork: Twigg, SR, et al.
  Argitaratua: (2006)
• Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
  nork: Twigg, SR, et al.
  Argitaratua: (2013)
• Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
  nork: Twigg, SR, et al.
  Argitaratua: (2004)