MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.

Eitemau Tebyg

• X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.
  gan: Fryns, J P, et al.
  Cyhoeddwyd: (1991)
• MASA syndrome: new clinical features and linkage analysis using DNA probes.
  gan: Schrander-Stumpel, C, et al.
  Cyhoeddwyd: (1990)
• Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.
  gan: Ruiz, J C, et al.
  Cyhoeddwyd: (1995)
• Further localization of X-linked hydrocephalus in the chromosomal region Xq28
  gan: Willems, Patrick J., et al.
  Cyhoeddwyd: (1992)
• Refining the genetic location of the gene for X linked hydrocephalus within Xq28.
  gan: Jouet, M, et al.
  Cyhoeddwyd: (1993)