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10.1002/ajmg.a.36288 http://scihub22266oqcxt.onion/10.1002/ajmg.a.36288 24311457!ä!24311457 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 219.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2014 ; 164A (2): 392-6 Nephropedia Template TP {{tp|p=24311457|t=2014. Multiple cafe au lait spots in familial patients with MAP2K2 mutation |pdf=|usr=}}{{24311457}} gab.com Text Multiple cafe au lait spots in familial patients with MAP2K2 mutation JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=24311457 #FOAvip Recent advances in genetic diagnostic technologies have made the classic disease nosology highly complicated. This situation is exemplified by rasopathies, among which neurofibromatosis type 1 and Noonan syndrome represent prototypic entities. The former condition is characterized by multiple cafe au lait spots and neurofibromas, while the latter is characterized by distinct facial features, webbed neck, congenital heart disease, and a short stature. On rare occasions, the features of both neurofibromatosis and Noonan syndrome co-exist within an individual; such patients are diagnosed as having neurofibromatosis-Noonan syndrome. Here, we report familial patients with multiple cafe au lait spots and Noonan syndrome-like facial features. A mutation analysis unexpectedly revealed a mutation in MAP2K2 in both the propositus and his mother. The propositus fulfilled the diagnostic criteria for neurofibromatosis type 1, but his mother did not. Their phenotype was not consistent with that of cardio-facio-cutaneous syndrome, which is classically known to be associated with MAP2K2 mutations. The mother of the propositus had cervical cancer at the age of 23 years, consistent with the oncogenic tendency associated with rasopathies. The phenotypic combination of multiple cafe au lait spots and Noonan syndrome-like facial features suggested a diagnosis of neurofibromatosis-Noonan syndrome. Whether this condition represents a discrete disease entity or a variable expression of neurofibromatosis type 1 has long been debated. The present observation suggests that some perturbation in the RAS/MAPK signaling cascade results in multiple cafe au lait spots, a key diagnostic phenotype of rasopathies, although the exact mechanism remains to be elucidated. Twit Text FOAVip Multiple cafe au lait spots in familial patients with MAP2K2 mutation ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=24311457 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24311457 #FOAvip English Wikipedia <ref>{{Cite pmid|24311457}}</ref> Multiple cafe au lait spots in familial patients with MAP2K2 mutation #MMPMID24311457 Takenouchi T; Shimizu A; Torii C; Kosaki R; Takahashi T; Saya H; Kosaki K Am J Med Genet A 2014[Feb]; 164A (2): 392-6 PMID24311457show ga Recent advances in genetic diagnostic technologies have made the classic disease nosology highly complicated. This situation is exemplified by rasopathies, among which neurofibromatosis type 1 and Noonan syndrome represent prototypic entities. The former condition is characterized by multiple cafe au lait spots and neurofibromas, while the latter is characterized by distinct facial features, webbed neck, congenital heart disease, and a short stature. On rare occasions, the features of both neurofibromatosis and Noonan syndrome co-exist within an individual; such patients are diagnosed as having neurofibromatosis-Noonan syndrome. Here, we report familial patients with multiple cafe au lait spots and Noonan syndrome-like facial features. A mutation analysis unexpectedly revealed a mutation in MAP2K2 in both the propositus and his mother. The propositus fulfilled the diagnostic criteria for neurofibromatosis type 1, but his mother did not. Their phenotype was not consistent with that of cardio-facio-cutaneous syndrome, which is classically known to be associated with MAP2K2 mutations. The mother of the propositus had cervical cancer at the age of 23 years, consistent with the oncogenic tendency associated with rasopathies. The phenotypic combination of multiple cafe au lait spots and Noonan syndrome-like facial features suggested a diagnosis of neurofibromatosis-Noonan syndrome. Whether this condition represents a discrete disease entity or a variable expression of neurofibromatosis type 1 has long been debated. The present observation suggests that some perturbation in the RAS/MAPK signaling cascade results in multiple cafe au lait spots, a key diagnostic phenotype of rasopathies, although the exact mechanism remains to be elucidated. |*Family[MESH] |*Mutation[MESH] |Adult[MESH] |Amino Acid Sequence[MESH] |Cafe-au-Lait Spots/diagnosis/*genetics[MESH] |Child[MESH] |Child, Preschool[MESH] |DNA Mutational Analysis[MESH] |Female[MESH] |Humans[MESH] |MAP Kinase Kinase 2/*genetics[MESH] |Male[MESH] |Molecular Sequence Data[MESH] |Phenotype[MESH]Multiple cafe au lait spots in familial patients with MAP2K2 mutation (epmc).pdf DeepDyve Pubget Overpricing