Distrofia retiniana com onda rápida escotópica (DRORE) associada à síndrome dos cabelos anágenos frouxos (SCAF). Parte I: Achados oftalmológicos

Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing

“…1 As this association was not previously described, a new syndrome was proposed. [1][2][3][4] Subsequently, two further families with macular dystrophy and alopecia were referred to us for evaluation (Families #2 and #3).…”