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Article

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.

BMC medical genetics - 22 Apr 2011

Khan Muzammil Ahmad, Rafiq Muhammad Arshad, Noor Abdul, Ali Nadir, Ali Ghazanfar, Vincent John B, Ansar Muhammad

Abstract excerpt

BACKGROUND: Intellectual disability (ID) is a serious disorder of the central nervous system with a prevalence of 1-3% in a general population. In the past decades, the research focus has been predominantly on X-linked ID (68 loci and 19 genes for non syndromic X linked ID) while for autosomal recessive nonsyndromic ID (NSID) only 30 loci and 6 genes have been reported to date. METHODS: Genome-wide homozygosity...

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Topics

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Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 21513506
DOI: 10.1186/1471-2350-12-56
PMCID: PMC3096909

Genes

TUSC3
TRAPPC9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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