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last update : 28-09-2013
Symbol IPS1
Location 9q34.11
Name ichthyosis prematurity syndrome 1
Other name(s) congenital ichthyosis, autosomal recessive
Corresponding gene SLC27A4
Other symbol(s) IPS, ARCI
Main clinical features
  • complicating the mid trimester of pregnancy, with premature birth, thick cutaneous desquamating epidermis, respiratory complications, and eosinophilia
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease