Journal Articles
European Journal of Medical Genetics
Year : 2018
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https://amu.hal.science/hal-03147683
Submitted on : Saturday, February 20, 2021-3:35:38 PM
Last modification on : Friday, January 21, 2022-10:14:02 AM
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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⟩
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