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

Frederick T. CollisonThe Pangere Center for Hereditary Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Impaired, Chicago, IL, USA,

Yajing (Angela) XieDepartment of Ophthalmology, Columbia University, New York, NY, USA,

Tomasz GambinDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA,

Shalini JhangianiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA,

Donna MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA,

Richard GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, ;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA,

James R. LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA, ;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA,

Gerald A. FishmanThe Pangere Center for Hereditary Retinal Diseases, The Chicago Lighthouse for People Who Are Blind or Visually Impaired, Chicago, IL, USA, ;Department of Ophthalmology, University of Illinois at Chicago, Chicago, IL, USA, and

Rando AllikmetsDepartment of Ophthalmology, Columbia University, New York, NY, USA, ;Department of Pathology and Cell Biology, Columbia University, New York, NY, USACorrespondence[email protected]

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

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

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