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

doi:10.1093/hmg/ddy246

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 molec...

Topics

Animals
Centrioles
Centrosome
Cilia
Ciliopathies
Humans
Mice
Mutation
Proto-Oncogene Proteins
Short Rib-Polydactyly Syndrome
Transcription Factors

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