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4. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. Pode-Shakked B; Barash H; Ziv L; Gripp KW; Flex E; Barel O; Carvalho KS; Scavina M; Chillemi G; Niceta M; Eyal E; Kol N; Ben-Zeev B; Bar-Yosef O; Marek-Yagel D; Bertini E; Duker AL; Anikster Y; Tartaglia M; Raas-Rothschild A Clin Genet; 2017 May; 91(5):725-738. PubMed ID: 27807845 [TBL] [Abstract][Full Text] [Related]
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