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An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

12 Jan 2011

Abstract excerpt

IFT80, a protein component of intraflagellar transport (IFT) complex B, is required for the formation, maintenance and functionality of cilia. Mutations in IFT80 cause Jeune asphyxiating thoracic dystrophy (JATD) and short rib polydactyly (SRP) type III. Both diseases are autosomal recessive chondrodysplasias and share clinical and radiological similarities, including shortening of the long bones and constriction...

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PMID: 21227999
DOI: 10.1093/hmg/ddr013

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An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of ciliaPMID 21227999Read ↗

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