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The skeletal phenotype of achondrogenesis type 1A is caused exclusively by cartilage defects
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 osteogen...
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| Pubblicato in: | Development |
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| Autori principali: | , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
The Company of Biologists Ltd
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5825869/ https://ncbi.nlm.nih.gov/pubmed/29180569 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dev.156588 |
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