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Keywords: Mutation analysis
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Journal Articles
Journal:
Molecular Syndromology
Mol Syndromol (2010) 1 (1): 2–26.
Published Online: 15 January 2010
... characterizing NS and related conditions can be ascribed, in part, to the gene mutated and even the specific molecular lesion involved. Cardiofaciocutaneous syndrome Costello syndrome Genotype-phenotype correlations LEOPARD syndrome Molecular basis of disease Molecular epidemiology Mutation analysis...