BOR

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BOR

Abbreviation for branchio-oto-renal.

EYA1

A gene on chromosome 8q13.3 that encodes an eyes absent (EYA) family protein, which may play a role in the developing kidney, branchial arches, eyes and ears.

Molecular pathology
EYA1 mutations are linked to branchiootorenal (BOR) syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment defects.