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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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Egile Nagusiak: | , , , , , , , , , , , , , , , |
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Formatua: | Artigo |
Hizkuntza: | Inglês |
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Elsevier
2012
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Gaiak: | |
Sarrera elektronikoa: | 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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