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Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations

Ciliopathies constitute heterogeneous disorders that result from mutations in ciliary proteins. These proteins play an important role in the development of organs, physiology, and signaling pathways, and sequence variations in the genes encoding these proteins are associated with multisystem disorde...

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Dades bibliogràfiques
Publicat a:Mol Syndromol
Autors principals: Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Asiri, Abdulaziz, Al Tuwaijri, Abeer, Alhamoudi, Khaloud, Alyafee, Yusra, Al-Owain, Mohammed
Format: Artigo
Idioma:Inglês
Publicat: S. Karger AG 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8215951/
https://ncbi.nlm.nih.gov/pubmed/34177428
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000513829
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