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Article

Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.

Human genetics - 1 Jul 2013

Classen Carl Friedrich, Riehmer Vera, Landwehr Christina, Kosfeld Anne, Heilmann Stefanie, Scholz Caroline, Kabisch Sarah, Engels Hartmut, Tierling Sascha, Zivicnjak Miroslav, Schacherer Frank, Haffner Dieter, Weber Ruthild G

Abstract excerpt

When a known microimbalance affecting multiple genes is detected in a patient with syndromic intellectual disability, it is usually presumed causative for all observed features. Whole exome sequencing (WES) allows questioning this assumption. In this study of three families with children affected by unexplained syndromic intellectual disability, genome-wide copy number and subsequent analyses revealed a de novo...

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Identifiers

PMID: 23552953
DOI: 10.1007/s00439-013-1296-1

Genes

BLM
DLK1
EYA1
FBN1
OPHN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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