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10.1007/s00431-008-0858-z http://scihub22266oqcxt.onion/10.1007/s00431-008-0858-z 18958496!ä!18958496 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Pediatr 2009 ; 168 (8): 919-23 Nephropedia Template TP {{tp|p=18958496|t=2009. Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature |pdf=|usr=}}{{18958496}} gab.com Text Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature JO: Eur J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=18958496 #FOAvip Noonan syndrome is a highly variable disorder that has significant phenotypic overlap with Costello syndrome and cardio-facio-cutaneous syndrome. KRAS mutation was the second reported gene for Noonan syndrome. This study screened for mutation of the KRAS gene in 57 unrelated ethnic Chinese children suffering from Noonan syndrome without PTPN11 gene mutation in Taiwan. This work only identified two patients with different missense mutations (c.40G>A, p.Val14Ile; c.108A>G, p.Ile36Met) in the exon 1 of KRAS gene. This study also analyzed the characteristics of 34 reported cases involving KRAS mutations in the literature. All these patients presented with variable phenotypes, including Noonan syndrome (n = 19), cardio-facio-cutaneous syndrome (n = 7), Costello syndrome (n = 6), and Noonan/cardio-facio-cutaneous syndrome (n = 1). The phenotype of KRAS mutations was generally severe, including short stature, mental retardation, heart defects, etc. In conclusion, this investigation demonstrates that KRAS mutations are the cause in a minority of cases of Chinese patients with Noonan syndrome in Taiwan. Twit Text FOAVip Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature ????Eur J Pediatr http://www.kidney.de/pget.php?&tw=1&pmid=18958496 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=18958496 #FOAvip English Wikipedia <ref>{{Cite pmid|18958496}}</ref> Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature #MMPMID18958496 Lo FS; Lin JL; Kuo MT; Chiu PC; Shu SG; Chao MC; Lee YJ; Lin SP Eur J Pediatr 2009[Aug]; 168 (8): 919-23 PMID18958496show ga Noonan syndrome is a highly variable disorder that has significant phenotypic overlap with Costello syndrome and cardio-facio-cutaneous syndrome. KRAS mutation was the second reported gene for Noonan syndrome. This study screened for mutation of the KRAS gene in 57 unrelated ethnic Chinese children suffering from Noonan syndrome without PTPN11 gene mutation in Taiwan. This work only identified two patients with different missense mutations (c.40G>A, p.Val14Ile; c.108A>G, p.Ile36Met) in the exon 1 of KRAS gene. This study also analyzed the characteristics of 34 reported cases involving KRAS mutations in the literature. All these patients presented with variable phenotypes, including Noonan syndrome (n = 19), cardio-facio-cutaneous syndrome (n = 7), Costello syndrome (n = 6), and Noonan/cardio-facio-cutaneous syndrome (n = 1). The phenotype of KRAS mutations was generally severe, including short stature, mental retardation, heart defects, etc. In conclusion, this investigation demonstrates that KRAS mutations are the cause in a minority of cases of Chinese patients with Noonan syndrome in Taiwan. |*Germ-Line Mutation[MESH] |Asian People/*genetics[MESH] |Child[MESH] |Child, Preschool[MESH] |Female[MESH] |Humans[MESH] |Male[MESH] |Noonan Syndrome/*genetics[MESH] |Pedigree[MESH] |Proto-Oncogene Proteins p21(ras)[MESH] |Proto-Oncogene Proteins/*genetics[MESH] |Taiwan[MESH]Noonan syndrome caused by germline KRAS mutation in Taiwan: report of (epmc).pdf DeepDyve Pubget Overpricing