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Article

Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia.

American journal of medical genetics. Part A - 1 Sept 2015

Li You, Garrod Andrea S, Madan-Khetarpal Suneeta, Sreedher Gayathri, McGuire Marianne, Yagi Hisato, Klena Nikolai T, Gabriel George C, Khalifa Omar, Zahid Maliha, Panigrahy Ashok, Weiner Daniel J, Lo Cecilia W

Abstract excerpt

Ciliopathies such as cranioectodermal dysplasia, Sensenbrenner syndrome, short-rib polydactyly, and Jeune syndrome are associated with respiratory complications arising from rib cage dysplasia. While such ciliopathies have been demonstrated to involve primary cilia defects, we show motile cilia dysfunction in the airway of a patient diagnosed with cranioectodermal dysplasia. While this patient had mild thoracic...

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PMID: 25914204
DOI: 10.1002/ajmg.a.37133

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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