Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right body axis disturbance. Here we report maternally inherited and de novo mutations in PIH1D3 in four men affected with PCD. PIH1D3 is located on the X...

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Publicado no:Am J Hum Genet
Main Authors: Paff, Tamara, Loges, Niki T., Aprea, Isabella, Wu, Kaman, Bakey, Zeineb, Haarman, Eric G., Daniels, Johannes M.A., Sistermans, Erik A., Bogunovic, Natalija, Dougherty, Gerard W., Höben, Inga M., Große-Onnebrink, Jörg, Matter, Anja, Olbrich, Heike, Werner, Claudius, Pals, Gerard, Schmidts, Miriam, Omran, Heymut, Micha, Dimitra
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5223094/
https://ncbi.nlm.nih.gov/pubmed/28041644
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.11.019
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