Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing
Mónica Rosello, Alfonso Caro‐Llopis, Carmen Orellana, Silvestre Oltra, Marta Alemany-Albert, Ana Victoria Marco Hernández, Sandra Monfort, Laia Pedrola, Francisco Martı́nez, Miguel Tomás Vila
Topics & Concepts
Exome sequencingGenetic heterogeneityEtiologyHereditary spastic paraplegiaDNA sequencingGeneticsMicroarrayMedicineBioinformaticsMutationCopy-number variationSpasticGeneBiologyPhenotypeCerebral palsyPathologyGenomePhysical medicine and rehabilitationGene expressionGenomics and Rare DiseasesNeurogenetic and Muscular Disorders ResearchHereditary Neurological Disorders