The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

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 individuals with...

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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B., Kraus, Cornelia, Krumbiegel, Mandy, Reis, André, Thiel, Christian T., Popp, Bernt
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6371496/
https://ncbi.nlm.nih.gov/pubmed/30744660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1020-x
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