Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

Lignende værker

• Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.
  af: Nussbaum, R L, et al.
  Udgivet: (1985)
• Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation.
  af: Nussbaum, R L, et al.
  Udgivet: (1987)
• Linkage studies and deletion screening in choroideremia.
  af: Wright, A F, et al.
  Udgivet: (1990)
• A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient
  af: Liang, Siying, et al.
  Udgivet: (2017)
• Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.
  af: McCabe, E R, et al.
  Udgivet: (1992)