نتایج جستجو برای: rare mutation
تعداد نتایج: 516877 فیلتر نتایج به سال:
Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of neuromuscular transmission at the neuromuscular junction. Most patients with congenital myasthenic syndromes present in the infancy. Major symptoms of affected individuals include weakness and fatigue during the first years of life. Patients may show hypotonia, facial weakness, swallowing difficul...
the witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. this is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. a homozygous mutation was identified in 3’-utr of msx1 gene in ...
BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...
severe congenital neutropenia (scn) is a rare primary immunodeficiency. different genes are found to be associated with scn, including ela2, hax1, was, gfi1, g-csfr. also, recently g6pc3 as a rare gene in scn has been reported. patients with g6pc3 often have cardiac and/or urogenital malformations. two patients with persistent severe neutropenia, recurrent infections and maturatio...
inhibitor development is a lifelong challenge for patients with bleeding disorders who received replacement therapy. most commonly, inhibitor formation was observed in hemophilia a patients but patients with rare bleeding disorders (rbd) especially patients with deficiency of factor xiii (fxiii) and factor v (fv) can develop an inhibitor against exogenous factors. several factors considered as ...
results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...
background myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. in addition to jak2v617f mutation, several mutations in the c-mpl gene were described in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. the aim of present study was to investigate the frequ...
chronic granulomatous disease (cgd) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (nadph) oxidase complex. this complex is composed of membrane-bound gp91- phox and p22- phox subunits, and cytosolic subunits consisting of p47- phox , p67- phox , and p40- phox . a mutation in cybb gene encoding gp91- ph...
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