Cardio-facio-cutaneous syndrome

Known as: CFCS, CFC, Cardiofaciocutaneous (CFC) Syndrome 
A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose… (More)
National Institutes of Health

Related topics

Related topics

44 relations
Atrial Septal DefectsAutosomal dominant inheritanceBlepharoptosisByzanthine arch palate
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Broader (3)

Congenital Heart DefectsEctodermal DysplasiaFacies

Papers overview

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2011
2011
Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome.
Microdeletion of 17q21.31 causes a recurrent recognizable dysmorphic syndrome. A further four patients with 17q21.31… (More)
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2009
2009
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes… (More)
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2007
2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
BACKGROUND Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MAPK signalling cascade have… (More)
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Highly Cited
2006
Highly Cited
2006
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinctive facial appearance, heart defects and mental retardation… (More)
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Highly Cited
2006
Highly Cited
2006
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
Cardio-facio-cutaneous (CFC) syndrome is a sporadic developmental disorder involving characteristic craniofacial features… (More)
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Highly Cited
2006
Highly Cited
2006
Germline KRAS mutations cause Noonan syndrome
Noonan syndrome (MIM 163950) is characterized by short stature, facial dysmorphism and cardiac defects. Heterozygous mutations in… (More)
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2002
2002
Additional patient with del(12)(q21.2q22): further evidence for a candidate region for cardio-facio-cutaneous syndrome?
Cardio-facio-cutaneous (CFC) syndrome is characterized by a distinct facial appearance, cardiac defects, ectodermal anomalies and… (More)
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1999
1999
Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome.
A boy with characteristic facial features, pulmonary valvular stenosis, ectodermal abnormalities, growth failure, and mental… (More)
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Highly Cited
1996
Highly Cited
1996
Identification of primitive human hematopoietic cells capable of repopulating NOD/SCID mouse bone marrow: Implications for gene therapy
The development of stem–cell gene therapy is hindered by the absence of repopulation assays for primitive human hematopoietic… (More)
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1994
1994
The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?
The cardio-facio-cutaneous (CFC) syndrome has several features in common with the Noonan syndrome, but is distinguished by the… (More)
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