A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

Gelijkaardige items

• Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
  door: Beltrán-Valero de Bernabé, Daniel, et al.
  Gepubliceerd in: (2002)
• Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families
  door: Chang, Wendy, et al.
  Gepubliceerd in: (2009)
• Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
  door: d Beltran-Valero,, et al.
  Gepubliceerd in: (2004)
• POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
  door: van Reeuwijk, J, et al.
  Gepubliceerd in: (2005)
• Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
  door: van Reeuwijk, Jeroen, et al.
  Gepubliceerd in: (2007)