Publication
Expanding the TUBB3-Related Phenotypic Landscape
Article on fetal diagnosis of a novel TUBB3 variant and intrafamilial phenotypic variability.
First-author article on a TUBB3 variant, fetal diagnosis and phenotypic variability within a single family.
Links
- DOI: 10.1002/pd.6715
- PubMed: PMID 39625365
- Europe PMC: PMC11717741