Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

doi:10.1016/j.ajhg.2013.07.013

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Article

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

American journal of human genetics - 5 Sept 2013

Kott Esther, Legendre Marie, Copin Bruno, Papon Jean-François, Dastot-Le Moal Florence, Montantin Guy, Duquesnoy Philippe, Piterboth William, Amram Daniel, Bassinet Laurence, Beucher Julie, Beydon Nicole, Deneuville Eric, Houdouin Véronique, Journel Hubert, Just Jocelyne, Nathan Nadia, Tamalet Aline, Collot Nathalie, Jeanson Ludovic, Le Gouez Morgane, Vallette Benoit, Vojtek Anne-Marie, Epaud Ralph, Coste André, Clement Annick, Housset Bruno, Louis Bruno, Escudier Estelle, Amselem Serge

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a rare autosomal-recessive respiratory disorder resulting from defects of motile cilia. Various axonemal ultrastructural phenotypes have been observed, including one with so-called central-complex (CC) defects, whose molecular basis remains unexplained in most...

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Identifiers

PMID: 23993197
DOI: 10.1016/j.ajhg.2013.07.013
PMCID: PMC3769924

Genes

RSPH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23993197-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.PMID 23993197Read ↗

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