WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities
Arq. bras. oftalmol; 82 (4), 2019
ABSTRACT Aniridia is a congenital eye disorder with a variable degree of hypoplasia or absence of iris tissue. It is caused by loss of function of the PAX6 gene and may be an isolated ocular abnormality or part of a syndrome. WAGRO refers to a rare genetic condition leading to Wilms tumor, aniridia, geni...
Aniridia/diagnóstico, Aniridia/genética, Catarata/diagnóstico, Catarata/genética, Deleción Cromosómica, Cromosomas Humanos Par 11/genética, Cariotipo, Subluxación del Cristalino/diagnóstico, Subluxación del Cristalino/genética, Obesidad/diagnóstico, Obesidad/genética, Síndrome WAGR/diagnóstico, Síndrome WAGR/genética