Condition: Ichthyosis with hypotrichosis, autosomal recessive


rs137852931 in ST14 gene and Ichthyosis with hypotrichosis, autosomal recessive PMID 18843291 2009 Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing.

PMID 17273967 2007 Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.