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10.3233/PGE-14093 http://scihub22266oqcxt.onion/10.3233/PGE-14093 C5020994!5020994!27625873     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27625873&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 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Pediatr+Genet 2014 ; 3 (3): 163-6 Nephropedia Template TP {{tp|p=27625873|t=2014. Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene |pdf=|usr=}}{{27625873}} gab.com Text Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene JO: J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27625873 #FOAvip Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis. Molecular analysis revealed a novel fibrillin-2 mutation at the donor splice site of intron 28. We discuss the differential diagnosis of neonates with congenital contractures and review the current knowledge on congenital contractural arachnodactyly. Twit Text FOAVip Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene ????J Pediatr Genet http://www.kidney.de/pget.php?&tw=1&pmid=27625873 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27625873 #FOAvip English Wikipedia <ref>{{Cite pmid|27625873}}</ref> Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene #MMPMID27625873 Mehar V; Yadav D; Kumar R; Yadav S; Singh K; Callewaert B; Pathan S; De Paepe A; Coucke PJ J Pediatr Genet 2014[Sep]; 3 (3): 163-6 PMID27625873show ga Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. Only few cases have been described to date. Here we report a newborn with congenital contractures, crumpled ears and scoliosis. Molecular analysis revealed a novel fibrillin-2 mutation at the donor splice site of intron 28. We discuss the differential diagnosis of neonates with congenital contractures and review the current knowledge on congenital contractural arachnodactyly. äCongenital contractural arachnodactyly due to a novel splice site muta(epmc).pdf DeepDyve Pubget Overpricing