TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability
Author:
Funder
Fonds Wetenschappelijk Onderzoek
KU Leuven
National Institute of Neurological Disorders and Stroke
National Center for Advancing Translational Sciences
Publisher
Elsevier BV
Subject
Genetics (clinical)
Reference43 articles.
1. Prevalence of intellectual disability: a meta-analysis of population-based studies;Maulik;Res Dev Disabil,2011
2. Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity;Abou Jamra;Eur J Hum Genet,2011
3. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci;Najmabadi;Hum Genet,2007
4. A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features;Koifman;Am J Med Genet A,2010
5. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation;Mir;Am J Hum Genet,2009
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3. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies;Journal of Human Genetics;2024-03-11
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