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

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https://hal-amu.archives-ouvertes.fr/hal-03147683
Contributor : Valérie Delague <>
Submitted on : Saturday, February 20, 2021 - 3:35:38 PM
Last modification on : Sunday, February 21, 2021 - 3:09:53 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, Elsevier, 2018, 62 (11), pp.103576. ⟨10.1016/j.ejmg.2018.11.010⟩. ⟨hal-03147683⟩

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