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10.1038/s10038-019-0579-3 http://scihub22266oqcxt.onion/10.1038/s10038-019-0579-3 30842599!ä!30842599 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Hum+Genet 2019 ; 64 (5): 499-504 Nephropedia Template TP {{tp|p=30842599|t=2019. Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome |pdf=|usr=}}{{30842599}} gab.com Text Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome JO: J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=30842599 #FOAvip The genotype-phenotype correlation in BRAF variant in cardio-facio-cutaneous (CFC) syndrome is not clearly defined. Here we report a case with a severe clinical phenotype and a novel BRAF variant, p.Leu485del. The present case showed severe intellectual disability, impaired awareness, hyperekplexia, involuntary movements, early onset refractory seizures, and delayed myelination on brain magnetic resonance imaging as well as a polycystic and dysplastic kidney, which are previously unreported anomalies in CFC or RAS/mitogen-activated protein kinase syndromes related to BRAF variant. CFC syndrome, especially caused by BRAF variant, should be included in the differential diagnosis of patients with developmental and epileptic encephalopathies and hyperekplexia. Furthermore, we need to keep in mind that missense variants or the deletion of Leucine-485 may be associated with severe symptoms. Twit Text FOAVip Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome ????J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=30842599 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=30842599 #FOAvip English Wikipedia <ref>{{Cite pmid|30842599}}</ref> Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome #MMPMID30842599 Suzuki-Muromoto S; Miyabayashi T; Nagai K; Yamamura-Suzuki S; Anzai M; Takezawa Y; Sato R; Okubo Y; Endo W; Inui T; Togashi N; Kikuchi A; Niihori T; Aoki Y; Kure S; Haginoya K J Hum Genet 2019[May]; 64 (5): 499-504 PMID30842599show ga The genotype-phenotype correlation in BRAF variant in cardio-facio-cutaneous (CFC) syndrome is not clearly defined. Here we report a case with a severe clinical phenotype and a novel BRAF variant, p.Leu485del. The present case showed severe intellectual disability, impaired awareness, hyperekplexia, involuntary movements, early onset refractory seizures, and delayed myelination on brain magnetic resonance imaging as well as a polycystic and dysplastic kidney, which are previously unreported anomalies in CFC or RAS/mitogen-activated protein kinase syndromes related to BRAF variant. CFC syndrome, especially caused by BRAF variant, should be included in the differential diagnosis of patients with developmental and epileptic encephalopathies and hyperekplexia. Furthermore, we need to keep in mind that missense variants or the deletion of Leucine-485 may be associated with severe symptoms. |*Amino Acid Sequence[MESH] |*Sequence Deletion[MESH] |Child, Preschool[MESH] |Ectodermal Dysplasia/*genetics/pathology[MESH] |Facies[MESH] |Failure to Thrive/*genetics/pathology[MESH] |Heart Defects, Congenital/*genetics/pathology[MESH] |Humans[MESH] |Leucine[MESH] |Male[MESH] |Proto-Oncogene Proteins B-raf/*genetics[MESH]Leucine-485 deletion variant of BRAF may exhibit the severe end of the(epmc).pdf DeepDyve Pubget Overpricing