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Exome sequencing identifies novel missense and deletion variants in RTN4IP1 associated with optic atrophy, global developmental delay, epilepsy, ataxia, and choreoathetosis.
D'Gama, Alissa M; England, Eleina; Madden, Jill A; Shi, Jiahai; Chao, Katherine R; Wojcik, Monica H; Torres, Alcy R; Tan, Wen-Hann; Berry, Gerard T; Prabhu, Sanjay P; Agrawal, Pankaj B.
Afiliación
  • D'Gama AM; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • England E; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Madden JA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Shi J; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Chao KR; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Wojcik MH; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Torres AR; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong, Hong Kong SAR.
  • Tan WH; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
  • Berry GT; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Prabhu SP; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Agrawal PB; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Am J Med Genet A ; 185(1): 203-207, 2021 01.
Article en En | MEDLINE | ID: mdl-33037779
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Discapacidades del Desarrollo / Atrofia Óptica / Proteínas Mitocondriales / Epilepsia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Portadoras / Discapacidades del Desarrollo / Atrofia Óptica / Proteínas Mitocondriales / Epilepsia Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos