Condition: CILIARY DYSKINESIA, PRIMARY, 19


rs141945265 in LRRC6 gene and CILIARY DYSKINESIA, PRIMARY, 19 PMID 23122589 2012 Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 23527195 2013 LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.

PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.