Septooptic dysplasia: What Patients Should Know
By Dr. Kenji Garcia, MD · · Genetic Medicine
Patients often ask us about septooptic dysplasia. Here is what our Genetic Medicine clinicians want you to know.
About this topic
Topic: septooptic dysplasia. A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the homeobox gene HESX1 on chromosome 3p14.
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