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・ Bart Simpson (filmmaker)
・ Bart Simpson's Escape from Camp Deadly
・ Bart Simpson's Guide to Life
・ Bart Smit
・ Bart Smits
・ Bart Somers
・ Bart Spring in 't Veld
・ Bart Staes
・ Bart Stalmans
・ Bart Star
・ Bart Starr
・ Bart Stops to Smell the Roosevelts
・ Bart Straalman
・ Bart Stupak
・ Bart Swings
Bart syndrome
・ Bart Taminiau
・ Bart Tanski
・ Bart the Bear
・ Bart the Bear 2
・ Bart the Daredevil
・ Bart the Fink
・ Bart the General
・ Bart the Genius
・ Bart the Lover
・ Bart the Mother
・ Bart the Murderer
・ Bart Thompson
・ Bart to the Future
・ Bart Township, Lancaster County, Pennsylvania


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Bart syndrome : ウィキペディア英語版
Bart syndrome

Bart syndrome is a genetic disorder characterized by the association of congenital localized absence of skin, epidermolysis bullosa, lesions of the mouth mucosa, and dystrophic nails.〔
〕〔

==Genetics==
The disease is inherited by autosomal dominant transmission with complete penetrance but variable expression. This means that children of an affected parent that carries the gene have a 50% chance of developing the disorder, although the extent to which they are affected is variable.
Bart syndrome is caused by ultrastructural abnormalities in the anchoring fibrils. Genetic linkage of the inheritance of the disease points to the region of chromosome 3 near the collagen, type VII, alpha 1 gene (COL7A1).〔


抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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