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De novo TRPM3 missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.
Sundaramurthi, Jagadish Chandrabose; Bagley, Anita M; Blau, Hannah; Carmody, Leigh; Crandall, Amy; Danis, Daniel; Gargano, Michael A; Gustafson, Anxhela Gjyshi; Raney, Ellen M; Shingle, Mallory; Davids, Jon R; Robinson, Peter N.
Affiliation
  • Sundaramurthi JC; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.
  • Bagley AM; Shriners Children's Northern California, Sacramento, California 95817, USA.
  • Blau H; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.
  • Carmody L; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.
  • Crandall A; Shriners Children's, Portland, Oregon 97239, USA.
  • Danis D; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.
  • Gargano MA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut 06032, USA.
  • Gustafson AG; Shriners Children's Genomics Institute, Tampa, Florida 33612, USA.
  • Raney EM; Shriners Children's, Portland, Oregon 97239, USA.
  • Shingle M; Shriners Children's Northern California, Sacramento, California 95817, USA.
  • Davids JR; Shriners Children's Northern California, Sacramento, California 95817, USA.
  • Robinson PN; Department of Orthopaedic Surgery, University of California Davis Health, Sacramento, California 95817, USA.
Article in En | MEDLINE | ID: mdl-37684057

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebral Palsy / TRPM Cation Channels / Intellectual Disability / Nervous System Malformations Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2023 Type: Article Affiliation country: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebral Palsy / TRPM Cation Channels / Intellectual Disability / Nervous System Malformations Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Cold Spring Harb Mol Case Stud Year: 2023 Type: Article Affiliation country: United States