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Updated: Oct 12, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism

Raquel Baviera-Muñoz1, Dolores Martínez-Rubio1, Isabel Sastre-Bataller1

  • 1Health Research Institute (R.B.-M.), Hospital Universitari i Politècnic La Fe; Unit of Rare Neurodegenerative Diseases (D.M.-R., C.E.), Centro de Investigación Príncipe Felipe (CIPF); Joint Units INCLIVA & IIS La Fe Rare Diseases (D.M.-R., C.E.); Movement Disorders Unit (I.S.-B., M.C.-R., M.L.-L., J.P.-G., I.M.-T.), Neurology Department, Hospital Universitari i Politècnic La Fe; Department of Genetics (E.N.-M.), Hospital Universitari i Politècnic La Fe; and Health Sciences Faculty, Universidad Internacional de Valencia (VIU) (E.N.-M.), Valencia, Spain.

Neurology. Genetics
|November 26, 2021
PubMed
Abstract

No abstract available in PubMed .

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