Article
A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice.
Human molecular genetics - 15 Nov 2008
Fantauzzo Katherine A, Tadin-Strapps Marija, You Yun, Mentzer Sarah E, Baumeister Friedrich A M, Cianfarani Stefano, Van Maldergem Lionel, Warburton Dorothy, Sundberg John P, Christiano Angela M
Abstract excerpt
Ambras syndrome (AS) is a rare form of congenital hypertrichosis with excessive hair on the shoulders, face and ears. Cytogenetic studies have previously implicated an association with rearrangements of chromosome 8. Here we define an 11.5 Mb candidate interval for AS on chromosome 8q based on cytogenetic breakpoints in three patients. TRPS1, a gene within this interval, was deleted in a patient with an 8q23...
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