Revesz syndrome

Also known as exudative retinopathy with bone marrow failure, DKCA5, Dyskeratosis Congenita, Autosomal Dominant 5, Retinopathy-anemia-central nervous system anomalies syndrome, Revesz-DeBuse syndrome, Dyskeratosis congenita with bilateral exudative retinopathy

dyskeratosis congenita that has material basis in an X-linked recessive mutation of TINF2 on chromosome 14q12