Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

BACKGROUND: We present 3 members of a family with macular dystrophy, originally diagnosed as Stargardt disease, with a significantly variable age at onset, caused by a heterozygous mutation in CRX. CASE PRESENTATION: A 43-year-old female with bull’s eye maculopathy, whose sister was diagnosed with S...

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Detalhes bibliográficos
Publicado no:BMC Ophthalmol
Main Authors: Al-Khuzaei, Saoud, Hudspith, Karl A. Z., Broadgate, Suzanne, Shanks, Morag E., Clouston, Penny, Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8034119/
https://ncbi.nlm.nih.gov/pubmed/33836713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-021-01919-1
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