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10.1186/s12883-015-0310-8 http://scihub22266oqcxt.onion/10.1186/s12883-015-0310-8 C4407356!4407356!25884655     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25884655&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 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 245.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       BMC+Neurol 2015 ; 15 (ä): ä Nephropedia Template TP {{tp|p=25884655|t=2015. PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain |pdf=|usr=}}{{25884655}} gab.com Text PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain JO: BMC Neurol http://www.kidney.de/pget.php?&tw=1&pmid=25884655 #FOAvip Background: LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair and Legius syndrome. These conditions are caused by mutations in genes encoding proteins involved in the RAS-MAPK cellular pathway. Clinical heterogeneity and phenotype overlaps across those different syndromes is already recognized. Case presentation: We hereby report a heterozygous de novo mutation in the PTPN11 gene (c.1403C?>?T) manifesting with a clinical picture of LS during childhood, and later development of neuropathic pain with hypertrophic plexi, which are typically observed in NF1 but have not been reported in LS. Conclusion: LS caused by PTPN11 mutations may be associated with hypertrophic roots and plexi. Consequently, clinicians should be aware of the possible development of neuropathic pain and consider specific diagnostic work-up and management. Twit Text FOAVip PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain ????BMC Neurol http://www.kidney.de/pget.php?&tw=1&pmid=25884655 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25884655 #FOAvip English Wikipedia <ref>{{Cite pmid|25884655}}</ref> PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain #MMPMID25884655 Spatola M; Wider C; Kuntzer T; Croquelois A BMC Neurol 2015[]; 15 (ä): ä PMID25884655show ga Background: LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair and Legius syndrome. These conditions are caused by mutations in genes encoding proteins involved in the RAS-MAPK cellular pathway. Clinical heterogeneity and phenotype overlaps across those different syndromes is already recognized. Case presentation: We hereby report a heterozygous de novo mutation in the PTPN11 gene (c.1403C?>?T) manifesting with a clinical picture of LS during childhood, and later development of neuropathic pain with hypertrophic plexi, which are typically observed in NF1 but have not been reported in LS. Conclusion: LS caused by PTPN11 mutations may be associated with hypertrophic roots and plexi. Consequently, clinicians should be aware of the possible development of neuropathic pain and consider specific diagnostic work-up and management. äPTPN11 mutation manifesting as LEOPARD syndrome associated with hypert(epmc).pdf DeepDyve Pubget Overpricing