Autosomal dominant optic atrophy with unilateral facial palsy: a new hereditary condition?
A mother and daughter are reported with bilateral optic atrophy with onset in infancy and unilateral facial palsy. This appears to be a novel autosomal dominant disorder.
Thomson
A P
AP
Department of Paediatrics, Mid-Cheshire Hospitals NHS Trust, Leighton Hospital, Crewe, UK.
Neugebauer
M
M
Fryer
A
A
D000328:Adult; D002675:Child, Preschool; D005158:Facial Paralysis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D030342:Genetic Diseases, Inborn / Q000235:genetics; D006801:Humans; D009896:Optic Atrophy / Q000235:genetics*