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Article

Further delineation of the SATB2 phenotype.

European journal of human genetics : EJHG - 1 Aug 2014

Döcker Dennis, Schubach Max, Menzel Moritz, Munz Marita, Spaich Christiane, Biskup Saskia, Bartholdi Deborah

Abstract excerpt

SATB2 is an evolutionarily highly conserved chromatin remodeling gene located on chromosome 2q33.1. Vertebrate animal models have shown that Satb2 has a crucial role in craniofacial patterning and osteoblast differentiation, as well as in determining the fates of neuronal projections in the developing neocortex. In humans, chromosomal translocations and deletions of 2q33.1 leading to SATB2 haploinsufficiency are...

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Identifiers

PMID: 24301056
DOI: 10.1038/ejhg.2013.280
PMCID: PMC4350596

Genes

SATB2

Variants

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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