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Article

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2014

Coebergh J A, Fransen van de Putte D E, Snoeck I N, Ruivenkamp C, van Haeringen A, Smit L M

Abstract excerpt

We present a young boy whose mild ataxia and abnormal eye movements repeatedly deteriorated with fever, making him unable to sit or walk during fever episodes. SNP-array analysis identified a 202 kb deletion in chromosome 13q33.1 containing the fibroblast growth factor (FGF)14 gene, which is associated with spinocerebellar ataxia (SCA) 27. This 13q deletion was also present in the proband's mother and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24252256
DOI: 10.1016/j.ejpn.2013.10.006

Genes

FGF14

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A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.PMID 24252256Read ↗

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