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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Am J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2017
Matèries:
Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars