Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene
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DOI: 10.1080/13816810.2019.1686158
Abstract: ABSTRACT Background: Patients with intellectual disability syndromes frequently have coexisting abnormalities of ocular structures and the visual pathway system. The microphthalmos, anophthalmos, and coloboma (MAC) spectrum represent structural developmental eye defects that occur as part… read more here.
Keywords: microphthalmos anophthalmos; intellectual disability; two brothers; anophthalmos coloboma ... See more keywords