Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull’s Eye Maculopathy

Background: Methylmalonic aciduria and homocystinuria type C (cblC), a disorder of vitamin B12 (cobalamin) metabolism caused by mutations in the MMACHC gene, presents with many systemic symptoms, including neurological, cognitive, psychiatric, and thromboembolic events. Retinal phenotypes, including...

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Publicado en:Ophthalmic Genet
Autores principales: Collison, Frederick T., Xie, Yajing (Angela), Gambin, Tomasz, Jhangiani, Shalini, Muzny, Donna, Gibbs, Richard, Lupski, James R., Fishman, Gerald A., Allikmets, Rando
Formato: Artigo
Lenguaje:Inglês
Publicado: Informa Healthcare 2015
Materias:
Case Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4539287/
https://ncbi.nlm.nih.gov/pubmed/25687216
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/13816810.2015.1010736
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