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10.1136/jmg.2006.042796 http://scihub22266oqcxt.onion/10.1136/jmg.2006.042796 C2563180!2563180!16825433     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=16825433&cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215       J+Med+Genet 2006 ; 43 (11): 833-42 Nephropedia Template TP {{tp|p=16825433|t=2006. The cardiofaciocutaneous syndrome |pdf=|usr=}}{{16825433}} gab.com Text The cardiofaciocutaneous syndrome JO: J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=16825433 #FOAvip The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward?slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain?of?function mutations in four different genes BRAF, KRAS, mitogen?activated protein/extracellular signal?regulated kinase MEK1 and MEK2, all belonging to the same RAS?extracellular signal?regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP?2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS?ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness. Twit Text FOAVip The cardiofaciocutaneous syndrome ????J Med Genet http://www.kidney.de/pget.php?&tw=1&pmid=16825433 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=16825433 #FOAvip English Wikipedia <ref>{{Cite pmid|16825433}}</ref> The cardiofaciocutaneous syndrome #MMPMID16825433 Roberts A; Allanson J; Jadico SK; Kavamura MI; Noonan J; Opitz JM; Young T; Neri G J Med Genet 2006[Nov]; 43 (11): 833-42 PMID16825433show ga The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward?slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain?of?function mutations in four different genes BRAF, KRAS, mitogen?activated protein/extracellular signal?regulated kinase MEK1 and MEK2, all belonging to the same RAS?extracellular signal?regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP?2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS?ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness. äThe cardiofaciocutaneous syndrome (epmc).pdf DeepDyve Pubget Overpricing