Mutation of perinatal myosin heavy chain

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.

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Abstract

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...

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7 citations in Scopus
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8 citations in Web of Science®

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ID Code: 89484
Item Type: Journal Article
Refereed: Yes
Keywords: 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
DOI: 10.1056/NEJM200412093512420
ISSN: 0028-4793
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2004 Massachusetts Medical Society
Deposited On: 26 Oct 2015 03:01
Last Modified: 26 Oct 2015 03:01

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