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Definition of SATB2-associated syndrome

SATB2-associated syndrome: a recently-described genetic condition caused by mutations or changes in a gene known as SATB2. Symptoms of the condition include intellectual disability and severe speech problems and delays. They also may have other birth defects such as abnormalities of the teeth and palate or other abnormalities of the head and face (craniofacial anomalies). The SATB2 gene provides instructions for making a protein that helps control the development of certain body systems. The condition has also been referred to as Glass syndrome.

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References


NIH; Genetic Home Reference. "SATB2 gene." Updated: Aug 08, 2017.
<https://ghr.nlm.nih.gov/gene/SATB2>

Zarate YA, et al. SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations. Am J Med Genet A. 2017 Feb;173(2):327-337. doi: 10.1002/ajmg.a.38022.
<http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.38022/full>
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