The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Abstract Background The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de novo variants in TUBA1A. Results In three individual...
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| Autori principali: | , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2019-02-01
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| Serie: | Orphanet Journal of Rare Diseases |
| Soggetti: | |
| Accesso online: | http://link.springer.com/article/10.1186/s13023-019-1020-x |
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