Article

Classification of primary ciliary dyskinesia

2023-12-11

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare hereditary disease from the group of ciliopathies with extensive locus and allelic heterogeneity (ORPHA 244, 98861; OMIM 242650, 244000). This disease is inherited by autosomal dominant or autosomal recessive type and, less often, by X-linked type (OMIM 300424). Retinitis pigmentosa develops in the X-linked PCD variant. The overall minimum global prevalence of PCD accordi...

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Literature Corpus work: 0edfedb9-7a9b-509a-a107-e46bd3374dc1
DOI: 10.18093/0869-0189-2023-33-6-731-738

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