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Article

Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.

European journal of human genetics : EJHG - 1 May 2015

Kaiser Ann-Sophie, Maas Bianca, Wolff Anna, Sutter Christian, Janssen Johannes W G, Hinderhofer Katrin, Moog Ute

Abstract excerpt

SATB2, a gene encoding a highly conserved DNA-binding protein, is known to have an important role in craniofacial and neuronal development. Only a few patients with SATB2 variants have been described so far. Recently, Döcker et al provided a summary of these patients and delineated the SAS (SATB2-associated syndrome). We here report on a girl with intellectual disability, nearly absent speech and suspected...

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Source

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Identifiers

PMID: 25118029
DOI: 10.1038/ejhg.2014.163
PMCID: PMC4402638

Genes

SATB2

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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