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GENATLAS PHENOTYPE
last update : 27-02-2009
Symbol APIT
Location 3p14.3
Name pituitary aplasia
Corresponding gene HESX1
Main clinical features
  • anterior pituitary aplasia, in the absence of ectopic posterior pituitary and optic nerve abnormalitie , complete absence of the anterior pituitary revealed by a deficit in all anterior pituitary hormones
  • magnetic resonance imaging examination showed an anterior pituitary aplasia in a flat sella turcica and a normally located posterior pituitary
  • Genetic determination
    Function/system disorder
    Type malformation
    Remark(s)