Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: A boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

2004 ◽  
Vol 70 (2) ◽  
pp. 95-98 ◽  
Author(s):  
M. Cristina Digilio ◽  
Giuseppe Pacileo ◽  
Anna Sarkozy ◽  
Giuseppe Limongelli ◽  
Emanuela Conti ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Familial Aggregation ◽  
Leopard Syndrome ◽  
Ptpn11 Mutation

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

2011 ◽  
Vol 4 (1) ◽  
pp. 74 ◽  
Author(s):  
Madhusudan Ganigara ◽  
Atul Prabhu ◽  
RaghvannairSuresh Kumar
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Leopard Syndrome ◽  
Ptpn11 Mutation

scholarly journals Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation

2011 ◽  
Vol 121 (3) ◽  
pp. 1026-1043 ◽  
Author(s):  
Talita M. Marin ◽  
Kimberly Keith ◽  
Benjamin Davies ◽  
David A. Conner ◽  
Prajna Guha ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Mouse Model ◽  
Leopard Syndrome ◽  
Ptpn11 Mutation

LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

2013 ◽  
Vol 66 (5) ◽  
pp. 350-356 ◽  
Author(s):  
Atilano Carcavilla ◽  
José L. Santomé ◽  
Isabel Pinto ◽  
Jaime Sánchez-Pozo ◽  
Encarna Guillén-Navarro ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Noonan Syndrome ◽  
Leopard Syndrome

Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy

2020 ◽  
Vol 135 ◽  
pp. 168-173
Author(s):  
Patrycja Galazka ◽  
Renuka Jain ◽  
Lakshmi Muthukumar ◽  
Heather Sanders ◽  
Michelle Bush ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Leopard Syndrome

scholarly journals A Novel PTPN11 mutation in LEOPARD syndrome

2003 ◽  
Vol 21 (6) ◽  
pp. 654-654 ◽  
Author(s):  
E. Conti ◽  
T. Dottorini ◽  
A. Sarkozy ◽  
G. E. Tiller ◽  
G. Esposito ◽  
...  
Keyword(s):  
Leopard Syndrome ◽  
Ptpn11 Mutation

PTPN11 Mutation Associated with Aortic Dilation and Hypertrophic Cardiomyopathy in a Pediatric Patient with Noonan Syndrome

2009 ◽  
Vol 31 (1) ◽  
pp. 114-116 ◽  
Author(s):  
John L. Jefferies ◽  
John W. Belmont ◽  
Ricardo Pignatelli ◽  
Jeffrey A. Towbin ◽  
William J. Craigen
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Pediatric Patient ◽  
Noonan Syndrome ◽  
Aortic Dilation ◽  
Ptpn11 Mutation
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