5'-UTR SNP of FGF13 causes translational defect and intellectual disability
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چکیده
منابع مشابه
Chapter 5: Intellectual disability
Pragmatic language skills are often impacted in individuals with intellectual disability, a developmental condition defined by deficits in intellectual and adaptive skills. In this chapter, we review the literature on pragmatic language in three genetically-based causes of intellectual disability – Down syndrome, fragile X syndrome, and Williams syndrome. We focus on groupcomparison studies of ...
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Intellectual disability is a prevalent form of cognitive impairment, affecting 2-3% of the general population. It is a daunting societal problem characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social and practical adaptive skills. Intellectual disability is a clinically important disorder for which the etiology and p...
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Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcr...
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Mid-hindbrain malformations can occur during embryogenesis through a disturbance of transient and localized gene expression patterns within these distinct brain structures. Rho guanine nucleotide exchange factor (ARHGEF) family members are key for controlling the spatiotemporal activation of Rho GTPase, to modulate cytoskeleton dynamics, cell division, and cell migration. We identified, by mean...
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Received: 1 December 2014, Revised: 28 February 2015, Accepted: 28 February 2015, Published: 30 June 2015 *Corresponding author: Shin-Young Yim, M.D., Ph.D. The Children’s Rehabilitation Clinic, Department of Physical Medicine and Rehabilitation, Department of Medical Genetics, Ajou University School of Medicine, 164 Worldcup-ro, Yeongtong-gu, Suwon 443-380, Korea. Tel: +82-31-219-5284, Fax: +8...
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ژورنال
عنوان ژورنال: eLife
سال: 2021
ISSN: 2050-084X
DOI: 10.7554/elife.63021