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Article

Development and validation of a multiplex-PCR assay for X-linked intellectual disability.

BMC medical genetics - 5 Aug 2013

Jorge Paula, Oliveira Bárbara, Marques Isabel, Santos Rosário

Abstract excerpt

BACKGROUND: X-linked intellectual disability is a common cause of inherited cognitive deficit affecting mostly males. There are several genetic causes implicated in this condition, which has hampered the establishment of an accurate diagnosis. We developed a multiplex-PCR assay for the mutational hotspot regions of the FMR1, AFF2 and ARX genes. METHODS: The multiplex-PCR was validated in a cohort of 100 males...

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Source

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Identifiers

PMID: 23914978
DOI: 10.1186/1471-2350-14-80
PMCID: PMC3751858

Genes

AFF2
FMR1
ARX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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