Mutation of perinatal myosin heavy chain
| Data(s) |
2004
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|---|---|
| Resumo |
Veugelers et al. (July 29 issue)1 report on patients with the trismus–pseudocamptodactyly syndrome as having a “Carney complex variant.” Among more than 500 patients with the Carney complex in our database, there are none with the trismus–pseudocamptodactyly syndrome.2,3... |
| Identificador | |
| Publicador |
Massachusetts Medical Society |
| Relação |
DOI:10.1056/NEJM200412093512420 Stratakis, C.A., Bertherat, J., Carney, J.A., Brown, M.A., Morita, H., Nagai, R., Basson, C.T., Veugelers, M., & McDermott, D.A. (2004) Mutation of perinatal myosin heavy chain. New England Journal of Medicine, 351(24), pp. 2556-2558. |
| Direitos |
Copyright 2004 Massachusetts Medical Society |
| Fonte |
Faculty of Health; Institute of Health and Biomedical Innovation |
| Palavras-Chave | #myosin heavy chain #MYH8 protein #human #Carney complex #DNA polymorphism #gene #gene mutation #human #lentigo #letter #MYH8 gene #myxoma #priority journal #arthrogryposis #congenital malformation #finger #genetic polymorphism #genetics #heart tumor #mutation #note #pigment disorder #population genetics #syndrome #trismus #heart #missense mutation #prenatal development #Fingers #Genetics #Population #Heart Neoplasms #Humans #Myosin Heavy Chains #Pigmentation Disorders #Polymorphism #Genetic #Mutation #Missense |
| Tipo |
Journal Article |
