Phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication.

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Summary

The phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication (CMT1A) is revised, focusing on four phenotypic hallmarks: "classic" phenotype, as currently observed in proband patients, evolution of mild phenotype of secondary cases in infancy and early childhood, and minimal adult phenotype.

Type
review
Published
2009-01-01
Cited by
5
References
28

Keywords

Gene duplication, Phenotype, Clinical phenotype, Tooth disease, Genetics

References

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