First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

od Rejeb, Imen, Jilani, Houweyda, Elaribi, Yasmina, Hizem, Syrine, Hila, Lamia, Zillahrdt, Julia Lauer, Chelly, Jamel, Benjemaa, Lamia
Izdano u BMC Med Genet (2017)