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Article

CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease

5 Oct 2018

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30291279
DOI: 10.1038/s10038-018-0514-z

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CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal diseasePMID 30291279Read ↗

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.Semantic proximity Read ↗

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.Semantic proximity Read ↗

A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patientSemantic proximity Read ↗

Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia.Semantic proximity Read ↗

CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.Semantic proximity Read ↗

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary UltrastructureSemantic proximity Read ↗

28 novel mutations identified from 33 Chinese patients with cilia-related kidney disorders.Semantic proximity Read ↗

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesiaSemantic proximity Read ↗

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproductionSemantic proximity Read ↗

Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.Semantic proximity Read ↗

Exome sequencing reveals CCDC111 mutation associated with high myopia.Semantic proximity Read ↗

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndromeSemantic proximity Read ↗

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