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SATB2-Associated Syndrome Due to a c.715C>T:p(Arg239*) Variant in Adulthood: Natural History and Literature Review.

Genes - 8 Apr 2023

Copelli Matheus de Mello, Pairet Eleonore, Atique-Tacla Milena, Vieira Társis Paiva, Appenzeller Simone, Helaers Raphaël, Vikkula Miikka, Gil-da-Silva-Lopes Vera Lúcia

Abstract excerpt

SATB2-associated syndrome (SAS) is a rare condition, and it is characterized by severe developmental delay/intellectual disability, especially severe speech delay/or absence, craniofacial abnormalities, and behavioral problems. Most of the published reports are limited to children, with little information about the natural history of the disease and the possible novel signs and symptoms or behavioral changes in...

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PMID: 37107640
DOI: 10.3390/genes14040882
PMCID: PMC10137462

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