نتایج جستجو برای: joubert syndrome
تعداد نتایج: 622071 فیلتر نتایج به سال:
Mutations in the Abelson helper integration site-1 (AHI1) gene result in N-terminal Ahi1 fragments and cause Joubert syndrome, an autosomal recessive brain malformation disorder associated with delayed development. How AHI1 mutations lead to delayed development remains unclear. Here we report that full-length, but not N-terminal, Ahi1 binds Hap1, a huntingtin-associated protein that is essentia...
Joubert Syndrome (JS) in adult population is extremely rare. Here, we describe the first adult case seen in the Republic of Turkey. Our patient, a 19-year-old male, was diagnosed primarily by magnetic resonance imaging (MRI) finding of the typical “molar tooth sign”, in addition to JS clinical features such as mental retardation, hypotonia, dysarthria, nystagmus and ataxia. Detailed images of h...
MR imaging depicted vertically oriented folia instead of the normal horizontal folial pattern, hypoplastic cerebellar vermis, fusion of the inferior posterior cerebellum, and probable polymicrogyria in the superior cerebellar hemispheres in a child with hypotonia, nystagmus, ataxia, and psychomotor retardation. We propose that this newly discovered cerebellar malformation be added to the list o...
Objective Joubert syndrome (JS) is a rare autosomal recessive genetic disorder characterized by brain malformation, hypotonia, breathing abnormalities, ataxia, oculomotor apraxia, and developmental delay. The purpose of this study was to report the efficiency of the physiotherapy and rehabilitation program in a child with JS. Materials and Methods Our case is a 19-month-old female child with ...
This article reviews symptoms and signs of aberrant axon connectivity in humans, and summarizes major human genetic disorders that result, or have been proposed to result, from defective axon guidance. These include corpus callosum agenesis, L1 syndrome, Joubert syndrome and related disorders, horizontal gaze palsy with progressive scoliosis, Kallmann syndrome, albinism, congenital fibrosis of ...
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