Article
The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects.
Development (Cambridge, England) - 8 Jan 2018
Bird Ian M, Kim Susie H, Schweppe Devin K, Caetano-Lopes Joana, Robling Alexander G, Charles Julia F, Gygi Steven P, Warman Matthew L, Smits Patrick J
Abstract excerpt
Inactivating mutations in the ubiquitously expressed membrane trafficking component GMAP-210 (encoded by Trip11) cause achondrogenesis type 1A (ACG1A). ACG1A is surprisingly tissue specific, mainly affecting cartilage development. Bone development is also abnormal, but as chondrogenesis and osteogenesis are closely coupled, this could be a secondary consequence of the cartilage defect. A possible explanation for...
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