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Article

RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.

Clinical genetics - 1 Dec 2016

Valence S, Garel C, Barth M, Toutain A, Paris C, Amsallem D, Barthez M-A, Mayer M, Rodriguez D, Burglen L

Abstract excerpt

Pontocerebellar hypoplasias (PCH) are characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. We report five patients referred for PCH, showing atypical clinical and magnetic resonance imaging (MRI) features suggestive of defects in the Reelin pathway. We screened for mutations in RELN or VLDLR and compared the phenotype of these patients with that of previously reported...

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Source

Identifiers

PMID: 27000652
DOI: 10.1111/cge.12779

Genes

RELN
VLDLR

Provenance

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