نتایج جستجو برای: linked recessive
تعداد نتایج: 255427 فیلتر نتایج به سال:
anterior megalophthalmos is a developmental anomaly of the anterior ocular segment. this is an x-linked recessive disease and manifests as bilateral enlarged corneas, open iridocorneal angle, hypoplastic iris and dislocation and opacification of an apparently small lens. we have also observed obvious vitreoretinal degeneration in our patients. what may threaten visual acuity later is an open an...
BACKGROUND Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consang...
Two male cousins developed symptoms and signs of Addison's disease at age 3 weeks. The family history indicates that their disorder is inherited as an X-linked recessive.
PURPOSE To refine the interval for X-linked congenital idiopathic nystagmus at Xq24-q26.3 and to evaluate a novel candidate gene (Muscleblind-like 3 gene [MBNL3]). METHODS A single pedigree with congenital idiopathic nystagmus (CIN) inherited as an X-linked recessive trait underwent detailed clinical examination including nystagmology and electrophysiological investigation in selected subject...
Background and aims: Hearing loss (HL) happens due to the genetic or environmental causes or both. Risk factors include congenital infections and congenital deformities of auricle and ear duct. The present study was performed to briefly explain the genetics, molecular biology and epidemiology of HL in Middle East especially in Iran. Methods: An intense an...
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