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GENATLAS PHENOTYPE

last update : 13/09/2008

Symbol	BSI
Location	14q11.2
Name	bathing suit ichthyosis
Corresponding gene	TGM1
Main clinical features	characterized by pronounced scaling on the bathing suit areas but sparing of the extremities and the central face, may be temperature-sensitive phenotype
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Remark(s)

transglutaminase-1 (TGase-1) deficiency