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

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

Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation

2007 ◽  
Vol 157 (6) ◽  
pp. 1297-1299 ◽  
Author(s):  
M. Seishima ◽  
Y. Mizutani ◽  
Y. Shibuya ◽  
C. Arakawa ◽  
R. Yoshida ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Braf Mutation ◽  
Leopard Syndrome ◽  
Ptpn11 Mutation

scholarly journals PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain

BMC Neurology ◽  
2015 ◽  
Vol 15 (1) ◽  
Author(s):  
Marianna Spatola ◽  
Christian Wider ◽  
Thierry Kuntzer ◽  
Alexandre Croquelois
Keyword(s):  
Neuropathic Pain ◽  
Leopard Syndrome ◽  
Ptpn11 Mutation

scholarly journals A Patient With LEOPARD Syndrome and PTPN11 Mutation

Circulation ◽  
2009 ◽  
Vol 119 (9) ◽  
pp. 1328-1329 ◽  
Author(s):  
Lorenz H. Lehmann ◽  
Tim Schaeufele ◽  
Sebastian J. Buss ◽  
Maria Balanova ◽  
Wolfgang Hartschuh ◽  
...  
Keyword(s):  
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

scholarly journals Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation

2015 ◽  
Vol 307 (10) ◽  
pp. 891-895 ◽  
Author(s):  
Edina Nemes ◽  
Katalin Farkas ◽  
Barbara Kocsis-Deák ◽  
Andrea Drubi ◽  
Adrienn Sulák ◽  
...  
Keyword(s):  
Leopard Syndrome ◽  
Ptpn11 Mutation

scholarly journals LEOPARD SYNDROME: A REPORT OF A CASE WITH A NOVEL PTPN11 MUTATION.

2021 ◽  
Author(s):  
N. Rahal ◽  
Amir Sadi ◽  
E. Cohen-Barak ◽  
M. Ziv ◽  
J. Krausz ◽  
...  
Keyword(s):  
Leopard Syndrome ◽  
Ptpn11 Mutation

scholarly journals The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Hao Trong Nguyen ◽  
Nguyen Nhat Pham ◽  
Hoang Anh Vu ◽  
Tu Nguyen Anh Tran
Keyword(s):  
Pulmonary Valve ◽  
Ho Chi Minh City ◽  
City Hospital ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Ptpn11 Mutation ◽  
First Case ◽  
Brownish Black ◽  
Ocular Hypertelorism ◽  
Multiple Lentigines

LEOPARD syndrome is a rare congenital anomaly that involves several organs. Patients with this syndrome develop multiple lentigines resembling a leopard’s hide. LEOPARD is an acronym of the major features constituting the syndrome including lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, anomalies of genitalia, retardation of growth, and deafness. The syndrome is rare, and only 200 cases have been reported yet worldwide. We present the case of an 8-year-old female patient who visited the Ho Chi Minh City Hospital of Dermato-Venereology because of multiple brownish-black “dots” on her face and body. On examination, she also showed abnormalities in the maxillofacial bones, vertebrae, shoulders, sternum, and teeth, as well as deaf-mutism and growth retardation, which are typical of LEOPARD syndrome. Genetic analysis revealed a PTPN11 gene mutation in this case. To the best of our knowledge, this is the first case of LEOPARD syndrome reported in Vietnam.

Sign in / Sign up

Export Citation Format

Share Document