Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recessive ID (NS-ARID) appears extremely heterogeneous with numerous genes identified to date, in...

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Publicado no:JIMD Rep
Main Authors: El Chehadeh, S., Bonnet, C., Callier, P., Béri, M., Dupré, T., Payet, M., Ragon, C., Mosca-Boidron, A. L., Marle, N., Mugneret, F., Masurel-Paulet, A., Thevenon, J., Seta, N., Duplomb, L., Jonveaux, P., Faivre, L., Thauvin-Robinet, C.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375127/
https://ncbi.nlm.nih.gov/pubmed/25626710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_390
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