Condition: CILIARY DYSKINESIA, PRIMARY, 17


rs145457535 in CCDC103;FAM187A gene and CILIARY DYSKINESIA, PRIMARY, 17 PMID 24357714 2013 Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.

PMID 26123568 2015 A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

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

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

PMID 28790179 2018 High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

PMID 22581229 2012 CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.