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References OMIM Gene GeneReviews HGMD HGNC
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