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Purpose: To report the clinical and genetic study of two families of Egyptian origin with clinical anophthalmia. To further determine the role of the retina and anterior neural fold homeobox gene (RAX) in anophthalmia and associated cerebral malformations.
Jean-Pierre Hubaux, Jamal Nasir, Junjun Zhang
Kamiar Aminian, Anisoara Ionescu, Lena Carcreff, Stéphane Armand