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Article

Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.

European journal of human genetics : EJHG - 1 Jun 2011

Jensen Lars R, Chen Wei, Moser Bettina, Lipkowitz Bettina, Schroeder Christopher, Musante Luciana, Tzschach Andreas, Kalscheuer Vera M, Meloni Ilaria, Raynaud Martine, van Esch Hilde, Chelly Jamel, de Brouwer Arjan P M, Hackett Anna, van der Haar Sigrun, Henn Wolfram, Gecz Jozef, Riess Olaf, Bonin Michael, Reinhardt Richard, Ropers Hans-Hilger, Kuss Andreas W

Abstract excerpt

X-linked intellectual disability (XLID), also known as X-linked mental retardation, is a highly genetically heterogeneous condition for which mutations in >90 different genes have been identified. In this study, we used a custom-made sequencing array based on the Affymetrix 50k platform for mutat...

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Share to Carrier Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, X-Linked

Share to Hybridization, Genetic

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Source

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Identifiers

PMID: 21267006
DOI: 10.1038/ejhg.2010.244
PMCID: PMC3110040

Genes

ATRX
PQBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21267006-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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