A novelSOS1mutation in Costello/CFC syndrome affects signaling in both RAS and PI3K pathways

2013 ◽  
Vol 33 (2) ◽  
pp. 124-128 ◽  
Author(s):  
Munkhtuya Tumurkhuu ◽  
Makiko Saitoh ◽  
Junko Takita ◽  
Yoko Mizuno ◽  
Masashi Mizuguchi
Keyword(s):  
Cfc Syndrome

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement—the CFC syndrome

1986 ◽  
Vol 25 (3) ◽  
pp. 413-427 ◽  
Author(s):  
James F. Reynolds ◽  
Giovanni Neri ◽  
Jurgen P. Herrmann ◽  
Bruce Blumberg ◽  
James G. Coldwell ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Congenital Anomalies ◽  
Multiple Congenital Anomalies ◽  
Cutaneous Involvement ◽  
Cfc Syndrome

CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review

2011 ◽  
Vol 155 (3) ◽  
pp. 605-611 ◽  
Author(s):  
Eleftheria Papadopoulou ◽  
Stavros Sifakis ◽  
Katia Sol-Church ◽  
Eva Klein-Zighelboim ◽  
Deborah L. Stabley ◽  
...  
Keyword(s):  
Literature Review ◽  
Diagnostic Tool ◽  
Cfc Syndrome

The cardio-facio-cutaneous (CFC) syndrome ??? two possible new cases and review of the literature

1996 ◽  
Vol 5 (1) ◽  
pp. 65-72 ◽  
Author(s):  
M KRAJEWSKA-WALASEK ◽  
K CHRZANOWSKA ◽  
M JASTRZBSKA
Keyword(s):  
Review Of The Literature ◽  
Cfc Syndrome

CFC syndrome: report of familial cases

2008 ◽  
Vol 50 (6) ◽  
pp. 558-559 ◽  
Author(s):  
Margherita Lecora ◽  
Giancarlo Parenti ◽  
Generoso Andria
Keyword(s):  
Familial Cases ◽  
Cfc Syndrome ◽  
Syndrome Report

scholarly journals Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient

2017 ◽  
Vol 18 (12) ◽  
pp. 2591
Author(s):  
Jung-Yun Choi ◽  
Kyu-Min Han ◽  
Dongkyu Kim ◽  
Beom-Hee Lee ◽  
Han-Wook Yoo ◽  
...  
Keyword(s):  
Stem Cells ◽  
Induced Pluripotent Stem Cells ◽  
Pluripotent Stem Cells ◽  
Syndrome Patient ◽  
Induced Pluripotent ◽  
Cfc Syndrome ◽  
Disease Specific

Cardio-facio-cutaneous (CFC) syndrome: Report of an adult without mental retardation

1996 ◽  
Vol 63 (2) ◽  
pp. 382-385 ◽  
Author(s):  
Siranoush Manoukian ◽  
Faustina Lalatta ◽  
Angelo Selicorni ◽  
Gianluca Tadini ◽  
Riccardo Cavalli ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cfc Syndrome ◽  
Syndrome Report

Cardio-Facio-cutaneous (CFC) syndrome: Report of two patients without hyperkeratotic skin lesions

1991 ◽  
Vol 39 (2) ◽  
pp. 144-147 ◽  
Author(s):  
Yukihisa Matsuda ◽  
Ichiro Murano ◽  
Osamu Kondoh ◽  
Kiyosato Matsuo ◽  
Tadashi Kajii
Keyword(s):  
Skin Lesions ◽  
Cfc Syndrome ◽  
Syndrome Report
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