TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

doi:10.1016/j.ajhg.2016.08.006

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Article

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

American journal of human genetics - 6 Oct 2016

Sferra Antonella, Baillat Gilbert, Rizza Teresa, Barresi Sabina, Flex Elisabetta, Tasca Giorgio, D'Amico Adele, Bellacchio Emanuele, Ciolfi Andrea, Caputo Viviana, Cecchetti Serena, Torella Annalaura, Zanni Ginevra, Diodato Daria, Piermarini Emanuela, Niceta Marcello, Coppola Antonietta, Tedeschi Enrico, Martinelli Diego, Dionisi-Vici Carlo, Nigro Vincenzo, Dallapiccola Bruno, Compagnucci Claudia, Tartaglia Marco, Haase Georg, Bertini Enrico

Abstract excerpt

Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders caused by mutations in several genes encoding tubulin isoforms. Loss-of-function mutations in TBCE, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, cause two rare neurodevelopmental syndromes, hypoparathyroidism-retardation-dysmorphism and Kenny-Caffey syndrome. Although a...

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Identifiers

PMID: 27666369
DOI: 10.1016/j.ajhg.2016.08.006
PMCID: PMC5065657

Genes

TBCE

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