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Article

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

European journal of medical genetics - 1 Jul 2020

Laugwitz Lucia, Buchert Rebecca, Groeschel Samuel, Riess Angelika, Grimmel Mona, Beck-Wödl Stefanie, Sturm Marc, Gohla Georg, Döbler-Neumann Marion, Krägeloh-Mann Ingeborg, Haack Tobias B

Abstract excerpt

Pontocerebellar hypoplasia (PCH) comprises a clinically and genetically heterogeneous group of disorders characterized by hypoplasia and degeneration of the cerebellum and ventral pons. To date at least 18 different clinical subtypes of PCH associated with pathogenic variants in 19 different genes have been described. Only recently, bi-allelic variants in TBC1D23 have been reported as the underlying molecular...

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PMID: 32360255
DOI: 10.1016/j.ejmg.2020.103938

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