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

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 ...

Source: BMC Pulmonary Medicine - May 15, 2020 Category: Respiratory Medicine 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 and Majid Alfadhel Tags: Case report Source Type: research