Lataa...

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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Mol Syndromol
Päätekijät: Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Asiri, Abdulaziz, Al Tuwaijri, Abeer, Alhamoudi, Khaloud, Alyafee, Yusra, Al-Owain, Mohammed
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: S. Karger AG 2021
Aiheet:
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!