EF Moya

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Objectives PCD is an autosomal recessive condition that affects the structure and function of motile cilia in the respiratory tract, middle ear and reproductive organs. The estimated prevalence is 1:15,000, but as high as 1:2265 in the British Asian population. Mutations in the CCDC103 gene have recently been identified as PCD disease-causing in Pakistani(More)
We present a stratification of the genetic basis of primary ciliary dyskinesia (PCD), based on screening >230 individuals for gene mutations using various approaches including whole exome sequencing. PCD is a genetically heterogeneous recessive ciliopathy, characterized by chronic lung disease and laterality and fertility defects arising from cilia and(More)
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