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

Abstract

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 maculopathy, pigmentary retinopathy, and optic atrophy are… (More)
DOI: 10.3109/13816810.2015.1010736

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@inproceedings{Collison2015WholeES, title={Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull’s Eye Maculopathy}, author={Frederick T. Collison and Yajing Xie and Tomasz Gambin and Shalini N. Jhangiani and Donna M. Muzny and R. Gibbs and James R Lupski and Gerald Allen Fishman and Rando L. Allikmets}, booktitle={Ophthalmic genetics}, year={2015} }