Article

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

2020-09-01

Abstract excerpt

Rationale: Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia, but the genetic cause is not defined for all patients with PCD. Objectives: To identify disease-causingmutations in novel genes, we performed exome sequencing, follow-up characterization, mutation scanning, and genotype-phenotype studies in patients with PCD. Methods: Whole-exome sequencing was performed...

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Literature Corpus work: 8d2adabe-6150-55bd-a0e1-f1c0e7f5f2c8
DOI: 10.17615/tghp-rn94

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