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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: | , , , , , , , , , , , , , , , |
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格式: | Artigo |
語言: | Inglês |
出版: |
Elsevier
2012
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主題: | |
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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