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.