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10.1038/sj.ejhg.5200150 http://scihub22266oqcxt.onion/10.1038/sj.ejhg.5200150 9781012!ä!9781012 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       Eur+J+Hum+Genet 1998 ; 6 (1): 32-7 Nephropedia Template TP {{tp|p=9781012|t=1998. Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family |pdf=|usr=}}{{9781012}} gab.com Text Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=9781012 #FOAvip Noonan syndrome (NS) is an autosomal dominant condition with facial dysmorphy, congenital cardiac defects and short stature. A gene for NS has previously been linked to a 14 cM region in 12q24. We performed linkage analysis in a four generation Belgian family with NS in some individuals and cardio-facio-cutaneous (CFC) syndrome in others. Clinical data and linkage data in this family indicate that NS and CFC syndrome result from a variable expression of the same genetic defect. We report a maximum lod score of 4.43 at zero recombination for marker D12S84 in 12q24. A crossover in this pedigree narrows the candidate gene region for NS to a 5 cM interval between markers D12S84 and D12S1341. Twit Text FOAVip Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=9781012 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=9781012 #FOAvip English Wikipedia <ref>{{Cite pmid|9781012}}</ref> Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large family #MMPMID9781012 Legius E; Schollen E; Matthijs G; Fryns JP Eur J Hum Genet 1998[Jan]; 6 (1): 32-7 PMID9781012show ga Noonan syndrome (NS) is an autosomal dominant condition with facial dysmorphy, congenital cardiac defects and short stature. A gene for NS has previously been linked to a 14 cM region in 12q24. We performed linkage analysis in a four generation Belgian family with NS in some individuals and cardio-facio-cutaneous (CFC) syndrome in others. Clinical data and linkage data in this family indicate that NS and CFC syndrome result from a variable expression of the same genetic defect. We report a maximum lod score of 4.43 at zero recombination for marker D12S84 in 12q24. A crossover in this pedigree narrows the candidate gene region for NS to a 5 cM interval between markers D12S84 and D12S1341. |*Chromosomes, Human, Pair 12[MESH] |Abnormalities, Multiple/*genetics[MESH] |Face/*abnormalities[MESH] |Female[MESH] |Genetic Linkage/*genetics[MESH] |Genotype[MESH] |Heart Defects, Congenital/*genetics[MESH] |Humans[MESH] |Lod Score[MESH] |Male[MESH] |Noonan Syndrome/*genetics[MESH] |Pedigree[MESH] |Skin Abnormalities/*genetics/pathology[MESH]Fine mapping of Noonan/cardio-facio cutaneous syndrome in a large fami(epmc).pdf DeepDyve Pubget Overpricing