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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Hebebrand, Moritz, Hüffmeier, Ulrike, Trollmann, Regina, Hehr, Ute, Uebe, Steffen, Ekici, Arif B.
, Kraus, Cornelia, Krumbiegel, Mandy, Reis, André , Thiel, Christian T. and Popp, Bernt
(2019)
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Orphanet Journal of Rare Diseases 14 (1).
Date of publication of this fulltext: 03 Sep 2021 10:04
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| Item type | Article | ||||
| Journal or Publication Title | Orphanet Journal of Rare Diseases | ||||
| Publisher: | BMC | ||||
|---|---|---|---|---|---|
| Place of Publication: | LONDON | ||||
| Volume: | 14 | ||||
| Number of Issue or Book Chapter: | 1 | ||||
| Date | 2019 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik | ||||
| Identification Number |
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| Keywords | ABNORMAL NEURONAL MIGRATION; TUBA1A MUTATION; CORTICAL DEVELOPMENT; CORPUS-CALLOSUM; WIDE SPECTRUM; ALPHA; BRAIN; MALFORMATIONS; MECHANISMS; DATABASE; TUBA1A; Tubulin; Tubulinopathy; Lissencephaly; Brain malformation; Microcephaly; Developmental delay; Human phenotype ontology | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 48986 |
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