Article
Unstable pre-mutation may explain mosaic disease expression of incontinentia pigmenti in males.
American journal of medical genetics - 15 Feb 1994
Traupe H, Vehring K H
Abstract excerpt
Mosaic skin lesions following the lines of Blaschko are found in boys affected by incontinentia pigmenti (IP). For an X-linked gene defect, this is rather surprising. To explain the mosaic disease expression of IP in males, we propose that the disease is caused by an unstable pre-mutation, which normally remains silent in males during early embryogenesis. Occasionally "silencing" is incomplete and gives rise to...
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