Please use this identifier to cite or link to this item: https://observatorio.fm.usp.br/handle/OPI/33508
Title: PUS3 mutations are associated with intellectual disability, leukoencephalopathy, and nephropathy
Authors: PAIVA, Anderson Rodrigues Brandao deLYNCH, David S.MELO, Uira SoutoLUCATO, Leandro TavaresFREUA, FernandoASSIS, Bruno Della Ripa deBARCELOS, IsabellaLISTIK, ClariceSANTOS, Diego de Castro dosMACEDO-SOUZA, Lucia InesHOULDEN, HenryKOK, Fernando
Citation: NEUROLOGY-GENETICS, v.5, n.1, article ID UNSP e306, 4p, 2019
Abstract: Mutations in PUS3, which encodes a highly conserved enzyme responsible for posttranscriptional modification of tRNA, have been shown in a single family to be a cause of nonsyndromic intellectual disability (ID).(1) In this study, we used whole-exome sequencing (WES) to identify biallelic mutations in PUS3 associated with syndromic ID with dysmorphic features, white matter disease (WMD), and renal abnormalities in a nonconsanguineous family from Brazil.
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Artigos e Materiais de Revistas Científicas - FM/MNE
Departamento de Neurologia - FM/MNE

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - HC/InRad
Instituto de Radiologia - HC/InRad

Artigos e Materiais de Revistas Científicas - LIM/15
LIM/15 - Laboratório de Investigação em Neurologia

Artigos e Materiais de Revistas Científicas - LIM/44
LIM/44 - Laboratório de Ressonância Magnética em Neurorradiologia

Artigos e Materiais de Revistas Científicas - LIM/45
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica


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