Noonan syndrome type 4

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Noonan syndrome type 4

A relatively common autosomal dominant disorder (OMIM:610733) characterised by dysmorphic facies, hypertelorism, short stature, cardiac anomalies, deafness, motor delay, bleeding diathesis and pulmonary valve disease. It may rarely be associated with juvenile myelomonocytic leukaemia.

Molecular pathology
Caused by defects of SOS1, which encodes a guanine nucleotide exchange factor for RAS proteins, a family of membrane proteins that bind guanine nucleotides and participate in signal transduction pathways.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
The MHAA is a third generation serological assay with multiple recombinant HCV antigens from the core, NS3, NS4 and NS5 regions and thus can be useful in overall improved detection of patients exposed to HCV even during the window period.20 It is an inexpensive simple qualitative visual rapid test and does not require sophisticated instruments, expensive reagents or time consuming protocols as compared to other tests such as ELISA and NAT.
However, NS, NS4 score was found lower in the patients with TC genotype for DdeI gene (p < 0.05, Table 3), and HA, HA1, HA2 and C5 scores were found higher (p < 0.05).
In SA with 1 second, NS4 found the best solutions in three out of five instances (21459, 22552, 20872, 21508, and 22122) and NS5 found the best solutions in the first and second instances of the problem (21331, 22545, 21695, 21916, and 22626).
Las primeras utilizan peptidos sinteticos de regiones conservadas del core, NS3, NS4 y NS5; la sensibilidad estimada de este ensayo es del 98,9% y la especificidad del 100%, mientras que las de cuarta generacion han incorporado a NS4B y NS5A, con el fin de mejorar su sensibilidad y especificidad (24).
Synthetic soil solution, also called NS4 solution, was used during the test, to simulate a synthetic soil, with pH around 8.4.
Iwasaki et al., "Hepatitis C virus NS4 protein impairs the Th1 polarization of immature dendritic cells," Journal of Viral Hepatitis, vol.
Para medir la SRS, los hogares urbanos han sido clasificados en cuatro grupos o estratos de nivel socioeconomico (NS1, NS2, NS3 y NS4), definidos a partir de la variable Maximo nivel de instruccion del jefe de hogar (Cuadro 1).
Following the structural region is the non-structural (NS) region comprising of five proteins: NS1, NS2, NS3, NS4 and NS5.
Core, E1, E2, NS3, NS4 and NS5, with increased sensitivity and specificity were used.
Queremos hacer especial mencion a los items NS4 "En el colegio, desde pequeno me han ensenado que debo ayudar a quienes me necesiten" con una media de 4.27, lo que indica la posible existencia de politicas orientadas a estos temas en los centros escolares y, al item, CP3, relativo al control percibido "Creo que seria capaz de ayudar a alguna persona con discapacidad fisica" con una media de 4, que podria ser efecto del primero.
The NS4 (1/4" flow) followed in 2003 and has proven to be a flagship technology.