Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1002/ajmg.a.36842 http://scihub22266oqcxt.onion/10.1002/ajmg.a.36842 25423878!ä!25423878 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2015 ; 167A (2): 407-11 Nephropedia Template TP {{tp|p=25423878|t=2015. A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines |pdf=|usr=}}{{25423878}} gab.com Text A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=25423878 #FOAvip Noonan syndrome with multiple lentigines (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness. To date, PTPN11, RAF1, and BRAF have been reported to be causal for NSML. We report on a 13-year-old Japanese boy, who was diagnosed with NSML. He was found to have a novel heterozygous missense variant (c.305A > G; p.E102G) in MAP2K1, a gene mostly causal for cardio-facio-cutaneous syndrome (CFCS). He manifested fetal macrosomia, and showed hypotonia and poor sucking in the neonatal period. He had mild developmental delay, and multiple lentigines appearing at approximately age 3 years, as well as flexion deformity of knees bilaterally, subtle facial characteristics including ocular hypertelorism, sensorineural hearing loss, and precocious puberty. He lacked congenital heart defects or hypertrophic cardiomyopathy, frequently observed in patients with NSML, mostly caused by PTPN11 mutations. He also lacked congenital heart defects, characteristic facial features, or intellectual disability, frequently observed in those with CFCS caused by MAP2K1 or MAP2K2 mutations. This may be the first patient clinically diagnosed with NSML, caused by a mutation in MAP2K1. Twit Text FOAVip A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=25423878 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25423878 #FOAvip English Wikipedia <ref>{{Cite pmid|25423878}}</ref> A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines #MMPMID25423878 Nishi E; Mizuno S; Nanjo Y; Niihori T; Fukushima Y; Matsubara Y; Aoki Y; Kosho T Am J Med Genet A 2015[Feb]; 167A (2): 407-11 PMID25423878show ga Noonan syndrome with multiple lentigines (NSML), formerly referred to as LEOPARD syndrome, is a rare autosomal-dominant condition, characterized by multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, growth retardation, and sensorineural deafness. To date, PTPN11, RAF1, and BRAF have been reported to be causal for NSML. We report on a 13-year-old Japanese boy, who was diagnosed with NSML. He was found to have a novel heterozygous missense variant (c.305A > G; p.E102G) in MAP2K1, a gene mostly causal for cardio-facio-cutaneous syndrome (CFCS). He manifested fetal macrosomia, and showed hypotonia and poor sucking in the neonatal period. He had mild developmental delay, and multiple lentigines appearing at approximately age 3 years, as well as flexion deformity of knees bilaterally, subtle facial characteristics including ocular hypertelorism, sensorineural hearing loss, and precocious puberty. He lacked congenital heart defects or hypertrophic cardiomyopathy, frequently observed in patients with NSML, mostly caused by PTPN11 mutations. He also lacked congenital heart defects, characteristic facial features, or intellectual disability, frequently observed in those with CFCS caused by MAP2K1 or MAP2K2 mutations. This may be the first patient clinically diagnosed with NSML, caused by a mutation in MAP2K1. |*Heterozygote[MESH] |*Mutation[MESH] |*Phenotype[MESH] |Adolescent[MESH] |Amino Acid Sequence[MESH] |Amino Acid Substitution[MESH] |DNA Mutational Analysis[MESH] |Facies[MESH] |Humans[MESH] |LEOPARD Syndrome/*diagnosis/*genetics[MESH] |MAP Kinase Kinase 1/*genetics[MESH] |MAP Kinase Kinase 2/genetics[MESH] |Male[MESH]A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome(epmc).pdf DeepDyve Pubget Overpricing