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Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy NEJM 362:1181-1191, Lupski,J.R., et al, 2010 See this aricle in Pubmed Article Abstract As shown in this study of a family with Charcot-Marie-Tooth disease, whole-genome sequencing can identify clinically relevant variants and provide diagnostic information to inform the care of patients.

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(click to filter results - removes previous filter) Charcot-Marie-Tooth familial gene genetic diagnosis genetic neurologic disorders human genome neurologic disease,diagnoses of patient information and support

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