نتایج جستجو برای: autosomal recessive trait
تعداد نتایج: 117581 فیلتر نتایج به سال:
Abstract Background: Harlequin ichthyosis is a fatal and extremely rare disorder it is an inborn error of epidermal keratinisation with autosomal recessive inheritance. In most cases, neonates die within a few days after birth. Case presentation: We describe a male term infant born from a 32 years old woman with odd looking, clown like face. The skin was composed of rigid fixed plaques sep...
PURPOSE To predict the progression to legal blindness in patients with isolated inherited retinitis pigmentosa. METHODS This retrospective study evaluated patients with isolated inherited retinitis pigmentosa for age at onset, duration of the disease, and best-corrected visual acuity in an Asian Indian cohort. The Mann–Whitney U test was used to analyze the variables. RESULTS Of 134 patient...
We investigated the pattern of inheritance of maternal meiotic errors responsible for a high frequency of triploid progeny in a selected line of chickens. For the genetic analysis, F1 and backcross populations were produced from crosses between normal diploid individuals of the triploidy line and a control line. Triploid embryos were produced by 35% and 67% of reciprocal F1 females and by 24% a...
introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...
background: autosomal recessive non-syndromic hearing loss (arnshl) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. so far, more than seventy various dfnb loci have been mapped for arnshl by linkage analysis. the contribution of three common dfnb loci including dfnb3, dfnb9, dfnb21 and gap junction beta-2 (gjb2) gene mutations in arnshl was in...
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