Genetic & Genomic MedicinemedRxivPreprint
The First Report of a Homozygous TUBG1 Splice Variant: Expanding the Genetic Spectrum of Tubulinopathies and Confirming the Dominant-Negative Effect
Badreddine Elmakhzen, Yongjun Song, Oussama Kettani…·Omar Askander
This paper reports the first case of a homozygous TUBG1 splice variant in two siblings with tubulinopathy symptoms, expanding the known mutational spectrum and suggesting a recessive inheritance mechanism.