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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha: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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