LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation
In LEOPARD syndrome, mutations affecting exon 13 of the PTPN11 gene have been correlated with a rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy (HCM). This is a report of early onset severe HCM in an infant with LEOPARD syndrome and an unusual mutation in exon 13, sh...
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Format: | Book |
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Wolters Kluwer Medknow Publications,
2011-01-01T00:00:00Z.
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Call Number: |
A1234.567 |
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Copy 1 | Available |