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Article

Mutation of FOP/FGFR1OP in mice recapitulates human short rib-polydactyly ciliopathy.

Human molecular genetics - 1 Oct 2018

Cabaud Olivier, Roubin Régine, Comte Audrey, Bascunana Virginie, Sergé Arnauld, Sedjaï Fatima, Birnbaum Daniel, Rosnet Olivier, Acquaviva Claire

Abstract excerpt

Skeletal dysplasias are a clinically and genetically heterogeneous group of bone and cartilage disorders. A total of 436 skeletal dysplasias are listed in the 2015 revised version of the nosology and classification of genetic skeletal disorders, of which nearly 20% are still genetically and molecularly uncharacterized. We report the clinical and molecular characterization of a lethal skeletal dysplasia of the...

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PMID: 29982567
DOI: 10.1093/hmg/ddy246

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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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