A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene.

Autor: Kozina AA; Department of Medical Genomics Group, Institute of Biomedical Chemistry, Moscow, Russia.; Department of Science, Genotek Ltd., Moscow, Russia., Kanaeva GK; Medical Center Unity, Makhachkala, Russia., Baryshnikova NV; Department of General and Medical Genetics, Pirogov Russian National Research Medical University, Moscow, Russia.; Department of Science, Genotek Ltd., Moscow, Russia., Ilinskaya AY; Research Department, Eligens SIA, Marupes, Latvia., Kim AA; Department of Science, Genotek Ltd., Moscow, Russia., Erofeeva AV; Department of Science, Genotek Ltd., Moscow, Russia., Pogodina NA; Department of Science, Genotek Ltd., Moscow, Russia., Gadzhiyeva JP; Medical Center Unity, Makhachkala, Russia., Surkova EI; Department of Science, Genotek Ltd., Moscow, Russia., Ilinsky VV; Research Department, Eligens SIA, Marupes, Latvia.

Publikováno v: The Journal of international medical research [J Int Med Res] 2023 Oct; Vol. 51 (10), pp. 3000605231206294.