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Ophthalmic Genetics Volume 36, 2015 - Issue 3
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Case Reports

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]
 show all
Pages 270-275 | Received 30 Oct 2014, Accepted 18 Jan 2015, Published online: 17 Feb 2015

References

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