scholarly journals Cardiofaciocutaneous Syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Cardiofaciocutaneous Syndrome

Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts

2010 ◽  
Vol 163 (4) ◽  
pp. 881-884 ◽  
Author(s):  
M. Terao ◽  
N. Sakai ◽  
S. Higashiyama ◽  
Y. Kotobuki ◽  
A. Tanemura ◽  
...  
Keyword(s):  
Skin Fibroblasts ◽  
Erk Phosphorylation ◽  
Cardiofaciocutaneous Syndrome

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

Cutaneous Manifestations in Costello and Cardiofaciocutaneous Syndrome: Report of 18 Cases and Literature Review

2013 ◽  
Vol 30 (6) ◽  
pp. 665-673 ◽  
Author(s):  
Fanny Morice-Picard ◽  
Khaled Ezzedine ◽  
Marie-Ange Delrue ◽  
Benoit Arveiler ◽  
Patricia Fergelot ◽  
...  
Keyword(s):  
Literature Review ◽  
Cutaneous Manifestations ◽  
Cardiofaciocutaneous Syndrome ◽  
Syndrome Report

scholarly journals Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant

2019 ◽  
Vol 10 (6) ◽  
pp. 344-347
Author(s):  
Aslihan Sanri ◽  
Hakan Gurkan ◽  
Selma Demir
Keyword(s):  
De Novo ◽  
Pathogenic Variant ◽  
Cardiofaciocutaneous Syndrome

Fetal Autopsy Findings of Cardiofaciocutaneous Syndrome with a Unique BRAF Mutation

2014 ◽  
Vol 17 (1) ◽  
pp. 59-63
Author(s):  
Jefferson Terry ◽  
Katherine A. Rauen ◽  
Malgorzata J. M. Nowaczyk
Keyword(s):  
Braf Mutation ◽  
Fetal Autopsy ◽  
Autopsy Findings ◽  
Cardiofaciocutaneous Syndrome
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