Axenfeld-Rieger Anomaly, Plus
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Lowry RB, Gould DB, Walter MA, Savage PR. Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up. Am J Med Genet A. 2007 Jun 1;143A(11):1227-30.
Chitty LS, McCrimmon R, Temple IK, Russell-Eggitt IM, Baraitser M. Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype. Am J Med Genet. 1991 Sep 15;40(4):417-20.
De Hauwere RC, Leroy JG, Adriaenssens K, Van Heule R. Iris dysplasia, orbital hypertelorism, and psychomotor retardation: a dominantly inherited developmental syndrome. J Pediatr. 1973 Apr;82(4):679-81.