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LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation


Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu, India

Correspondence Address:
Madhusudan Ganigara
Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.79631

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Year : 2011  |  Volume : 4  |  Issue : 1  |  Page : 74-76

 

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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, showing genotype-phenotype correlation.






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Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu, India

Correspondence Address:
Madhusudan Ganigara
Department of Pediatric Cardiology, Madras Medical Mission, 4-A, Dr. JJ Nagar, Mugappair, Chennai - 600 037, Tamil Nadu
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.79631

Rights and Permissions

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, showing genotype-phenotype correlation.






[FULL TEXT] [PDF]*


        
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