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Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus

Pterygium syndromes are complex congenital disorders that encompass several distinct clinical conditions characterized by multiple skin webs affecting the flexural surfaces often accompanied by craniofacial anomalies. In severe forms, such as in the autosomal-recessive Bartsocas-Papas syndrome, earl...

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Main Authors: Mitchell, Karen, O'Sullivan, James, Missero, Caterina, Blair, Ed, Richardson, Rose, Anderson, Beverley, Antonini, Dario, Murray, Jeffrey C., Shanske, Alan L., Schutte, Brian C., Romano, Rose-Anne, Sinha, Satrajit, Bhaskar, Sanjeev S., Black, Graeme C.M., Dixon, Jill, Dixon, Michael J.
格式: Artigo
語言:Inglês
出版: Elsevier 2012
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3257958/
https://ncbi.nlm.nih.gov/pubmed/22197488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.013
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