Thème
Publication
Expanding the TUBB3-Related Phenotypic Landscape
Article on fetal diagnosis of a novel TUBB3 variant and intrafamilial phenotypic variability.
Talk
Intrafamilial Variability in Tubulinopathies
Recorded talk at the Western France Genetics Seminar on tubulinopathies.
Talk
Prenatal Diagnosis of a New TUBB3 Variant Linked With Anterior Distortion of the Interhemispheric Fissure and Intra-Familial Variability
Presentation at EuroDysmorpho, Barcelona, June 2022, on prenatal diagnosis of a new TUBB3 variant.