Thème
Publication
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies
Contribution to an article on SMARCA4 and ocular developmental anomalies.
Publication
Expanding the TUBB3-Related Phenotypic Landscape
Article on fetal diagnosis of a novel TUBB3 variant and intrafamilial phenotypic variability.
Publication
Short Stature Related to the SHOX Gene
Contribution to a retrospective multicenter study on CNVs and SHOX sequencing.
Talk
Intrafamilial Variability in Tubulinopathies
Recorded talk at the Western France Genetics Seminar on tubulinopathies.