Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report

Abstract Background Primary Ciliary Dyskinesia (PCD) is also known as immotile-cilia syndrome, an autosomal recessive disorder of ciliary function, leading to mucus retention in the respiratory system in childhood. Our knowledge in the pathophysiological aspect of this devastating disorder is increa...

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Bibliographic Details
Main Authors: Fuad Al Mutairi, Randa Alkhalaf, Abdullah Alkhorayyef, Fayhan Alroqi, Alyafee Yusra, Muhammad Umair, Fetaini Nouf, Amjad Khan, Alharbi Meshael, Aleidi Hamad, Alaujan Monira, Abdulaziz Asiri, Kheloud M. Alhamoudi, Majid Alfadhel
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Pulmonary Medicine
Subjects:
NEK10
Immotile-cilia syndrome
Homozygous nonsense variant
Respiratory issues
Genetic testing
Primary Ciliary dyskinesia
Online Access:http://link.springer.com/article/10.1186/s12890-020-1175-1

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http://link.springer.com/article/10.1186/s12890-020-1175-1

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