Mutation of serine/threonine protein kinase 36 ( STK36 ) causes primary ciliary dyskinesia with a central pair defect-Reference-Cited by-同舟云学术

Mutation of serine/threonine protein kinase 36 ( STK36 ) causes primary ciliary dyskinesia with a central pair defect

Published:2017-06-15 Issue:8 Volume:38 Page:964-969
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Edelbusch Christine¹,Cindrić Sandra¹^ORCID,Dougherty Gerard W.¹,Loges Niki T.¹,Olbrich Heike¹,Rivlin Joseph²,Wallmeier Julia¹,Pennekamp Petra¹,Amirav Israel³,Omran Heymut¹

Affiliation:

1. Department of General PediatricsUniversity Children's Hospital Muenster Muenster Germany

2. Department of PediatricsCarmel Medical Center Haifa Israel

3. Department of PediatricsUniversity of Alberta Edmonton Alberta Canada

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23261

Reference26 articles.

1. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

2. Hydrocephalus: Changes in Formation and Absorption of Cerebrospinal Fluid Within the Cerebral Ventricles

3. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

4. RPGRmutations might cause reduced orientation of respiratory cilia

5. Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography

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