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

Benzer Materyaller

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