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Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott, Hilary A; Place, Emily M; Ferenchak, Kevin; Zampaglione, Erin; Wagner, Naomi E; Chao, Katherine R; DiTroia, Stephanie P; Navarro-Gomez, Daniel; Mukai, Shizuo; Huckfeldt, Rachel M; Pierce, Eric A; Bujakowska, Kinga M.
Affiliation
  • Scott HA; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Place EM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Ferenchak K; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Zampaglione E; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Wagner NE; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Chao KR; Center for Mendelian Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • DiTroia SP; Center for Mendelian Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.
  • Navarro-Gomez D; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Mukai S; Retina Service, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Huckfeldt RM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Pierce EA; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
  • Bujakowska KM; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.
Cold Spring Harb Mol Case Stud ; 6(1)2020 02.
Article in En | MEDLINE | ID: mdl-32014858
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Retinal Diseases / Genetic Predisposition to Disease / Alcohol Oxidoreductases / Genetic Association Studies / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States
Fulltext
Add to My VHL
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Retinal Diseases / Genetic Predisposition to Disease / Alcohol Oxidoreductases / Genetic Association Studies / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2020 Document type: Article Affiliation country: United States Country of publication: United States