1.
J AAPOS
; 25(6): 370-373, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34628026
RESUMO
Cerebellar-facial-dental syndrome (CFDS) is a newly described autosomal recessive genetic disorder characterized by mutations in the BRF1 gene. CFDS is clinically associated with dysmorphic facial features and cerebellar hypoplasia. We report visually significant progressive bilateral nuclear cataracts in a child with CFDS and identify a new causative genetic variant.