Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

Short-rib polydactyly syndromes (SRPS I–V) are a group of lethal congenital disorders characterized by shortening of the ribs and long bones, polydactyly, and a range of extraskeletal phenotypes. A number of other disorders in this grouping, including Jeune and Ellis-van Creveld syndromes, have an o...

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Autors principals: McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3769922/
https://ncbi.nlm.nih.gov/pubmed/23910462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.06.022
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