A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)

André Mégarbané (1, 2) , Ghassan Hmaimess (3) , Sami Bizzari (4) , Lara El-Bazzal (5) , Mahmoud Taleb Al-Ali (4) , Samantha Stora (2) , Valérie Delague (5) , Stephany El-Hayek (4)

1 Human Genetics Department [LAU Gilbert and Rose-Marie Chagoury School of Medicine]
2 Institut Jérôme Lejeune
3 Balamand University Medical School
4 CAGS - Center for arab genomic studies
5 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

Domains: Life Sciences [q-bio]; Life Sciences [q-bio]; Genetics; Life Sciences [q-bio]; Human health and pathology

André Mégarbané, Ghassan Hmaimess, Sami Bizzari, Lara El-Bazzal, Mahmoud Taleb Al-Ali, et al.. A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22). European Journal of Medical Genetics, 2018, 62 (11), pp.103576. ⟨10.1016/j.ejmg.2018.11.010⟩. ⟨hal-03147683⟩