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http://scihub22266oqcxt.onion/ 22876591!ä!22876591 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       Genet+Couns 2012 ; 23 (2): 305-11 Nephropedia Template TP {{tp|p=22876591|t=2012. A cardio-facio-cutaneous syndrome case with tight Achilles tendons |pdf=|usr=}}{{22876591}} gab.com Text A cardio-facio-cutaneous syndrome case with tight Achilles tendons JO: Genet Couns http://www.kidney.de/pget.php?&tw=1&pmid=22876591 #FOAvip Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis. Twit Text FOAVip A cardio-facio-cutaneous syndrome case with tight Achilles tendons ????Genet Couns http://www.kidney.de/pget.php?&tw=1&pmid=22876591 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=22876591 #FOAvip English Wikipedia <ref>{{Cite pmid|22876591}}</ref> A cardio-facio-cutaneous syndrome case with tight Achilles tendons #MMPMID22876591 Hazan F; Aykut A; Hizarcioglu M; Tavli V; Onay H; Ozkinay F Genet Couns 2012[]; 23 (2): 305-11 PMID22876591show ga Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis. |Abnormalities, Multiple/*genetics[MESH] |Achilles Tendon/*abnormalities[MESH] |Child, Preschool[MESH] |Ectodermal Dysplasia/*genetics[MESH] |Facies[MESH] |Failure to Thrive/*genetics[MESH] |Heart Defects, Congenital/*genetics[MESH] |Humans[MESH] |Male[MESH] |Mutation[MESH]A cardio-facio-cutaneous syndrome case with tight Achilles tendons (epmc).pdf DeepDyve Pubget Overpricing