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Article

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

Journal of medical genetics - 1 Feb 2017

Martínez Francisco, Caro-Llopis Alfonso, Roselló Mónica, Oltra Silvestre, Mayo Sonia, Monfort Sandra, Orellana Carmen

Abstract excerpt

BACKGROUND: Intellectual disability is a very complex condition where more than 600 genes have been reported. Due to this extraordinary heterogeneity, a large proportion of patients remain without a specific diagnosis and genetic counselling. The need for new methodological strategies in order to detect a greater number of mutations in multiple genes is therefore crucial. METHODS: In this work, we screened a...

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Source

Identifiers

PMID: 27620904
DOI: 10.1136/jmedgenet-2016-103964

Genes

AGO1
FBXO11
HDAC2
JARID2
SMARCC2

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