Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

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Description scientific article published on 2 November 2016
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author: Giovanni Chillemi  Marcello Niceta  Marco Tartaglia  Enrico Bertini 

Publication date December 16, 2016
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