Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.

Al Zahrani, Haifa; Siriwardena, Komudi; Young, Dana; Lehman, Anna; Horvath, Gabriella A; Goez, Helly

Al Zahrani, Haifa; Siriwardena, Komudi; Young, Dana; Lehman, Anna; Horvath, Gabriella A; Goez, Helly.

Afiliação

Al Zahrani H; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, Canada.
Siriwardena K; Department of Medical Genetics, University of Alberta/Stollery Children's Hospital, Canada.
Young D; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, Canada.
Lehman A; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, Canada.
Horvath GA; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, Canada. Electronic address: Gabriella.Horvath@cw.bc.ca.
Goez H; Pediatric Neurometabolic Clinic, Glenrose Rehabilitation Hospital, Stollery Children's Hospital, Edmonton, Alberta, Canada.

Mol Genet Metab ; 137(4): 420-427, 2022 Dec.

Article em En | MEDLINE | ID: mdl-34364746

Assuntos

Paralisia Cerebral; Humanos; Paralisia Cerebral/diagnóstico; Paralisia Cerebral/genética; Genômica; Sequenciamento de Nucleotídeos em Larga Escala/métodos; Testes Genéticos/métodos; Fenótipo

Palavras-chave

Cerebral Palsy (CP); Intellectual disability (ID); Molecular diagnosis; Next-Generation-Sequencing (NGS); Treatment

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Paralisia Cerebral Tipo de estudo: Diagnostic_studies / Guideline Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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