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LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects

19 Mar 2013

Abstract excerpt

Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical features, reduced nasal nitric oxide concentrations, and absent dynein arms. Linkage analyses revealed a single common homozygous region on chromosome 8 and one...

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PMID: 23527195
DOI: 10.1371/journal.pone.0059436

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LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm DefectsPMID 23527195Read ↗

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