Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

doi:10.1007/s00330-017-4945-2

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Article

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.

European radiology - 1 Dec 2017

Romaniello Romina, Arrigoni Filippo, Panzeri Elena, Poretti Andrea, Micalizzi Alessia, Citterio Andrea, Bedeschi Maria Francesca, Berardinelli Angela, Cusmai Raffaella, D'Arrigo Stefano, Ferraris Alessandro, Hackenberg Annette, Kuechler Alma, Mancardi Margherita, Nuovo Sara, Oehl-Jaschkowitz Barbara, Rossi Andrea, Signorini Sabrina, Tüttelmann Frank, Wahl Dagmar, Hehr Ute, Boltshauser Eugen, Bassi Maria Teresa, Valente Enza Maria, Borgatti Renato

Abstract excerpt

OBJECTIVE: To determine the neuroimaging pattern of cerebellar dysplasia (CD) and other posterior fossa morphological anomalies associated with mutations in tubulin genes and to perform clinical and genetic correlations. METHODS: Twenty-eight patients harbouring 23 heterozygous pathogenic variants (ten novel) in tubulin genes TUBA1A (n = 10), TUBB2B (n = 8) or TUBB3 (n = 5) were studied by a brain MRI scan...

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PMID: 28677066
DOI: 10.1007/s00330-017-4945-2

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TUBB3

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