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Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

Scientific reports - 20 Apr 2016

Cortés Claudio R, McInerney-Leo Aideen M, Vogel Ida, Rondón Galeano Maria C, Leo Paul J, Harris Jessica E, Anderson Lisa K, Keith Patricia A, Brown Matthew A, Ramsing Mette, Duncan Emma L, Zankl Andreas, Wicking Carol

Abstract excerpt

Ciliopathies are a group of genetic disorders caused by defective assembly or dysfunction of the primary cilium, a microtubule-based cellular organelle that plays a key role in developmental signalling. Ciliopathies are clinically grouped in a large number of overlapping disorders, including the orofaciodigital syndromes (OFDS), the short rib polydactyly syndromes and Jeune asphyxiating thoracic dystrophy....

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Identifiers

PMID: 27094867
DOI: 10.1038/srep24083
PMCID: PMC4837335

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.PMID 27094867Read ↗

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