A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) - Aix-Marseille Université Access content directly
Journal Articles European Journal of Medical Genetics Year : 2018
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hal-03147683 , version 1 (20-02-2021)

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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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