1.
J AAPOS
; 25(6): 370-373, 2021 12.
Artículo
en Inglés
| MEDLINE
| ID: mdl-34628026
RESUMEN
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.
Asunto(s)
Catarata , Factores Asociados con la Proteína de Unión a TATA , Catarata/genética , Cerebelo/anomalías , Cerebelo/diagnóstico por imagen , Niño , Discapacidades del Desarrollo , Humanos , Mutación
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