Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Brock, Stefanie

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1. [electronic resource] - European journal of human genetics : EJHG 08 2018 - 1132-1142 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1476-5438

10.1038/s41431-018-0146-y doi


Adolescent
Adult
Brain--diagnostic imaging
Child
Cognitive Dysfunction--genetics
Female
Heterozygote
Humans
Lissencephaly--genetics
Male
Microcephaly--genetics
Mutation, Missense
Phenotype
Syndrome
Tubulin--chemistry