Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.

doi:10.1111/cge.13912

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Article

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.

Clinical genetics - 1 Apr 2021

Zarate Yuri A, Bosanko Katherine A, Thomas Mary Ann, Miller David T, Cusmano-Ozog Kristina, Martinez-Monseny Antonio, Curry Cynthia J, Graham John M, Velsher Lea, Bekheirnia Mir Reza, Seidel Veronica, Dedousis Demitrios, Mitchell Anna L, DiMarino Amy M, Riess Angelika, Balasubramanian Meena, Fish Jennifer L, Caffrey Aisling R, Fleischer Nicole, Pierson Tyler Mark, Lacro Ronald V

Abstract excerpt

SATB2-Associated syndrome (SAS) is an autosomal dominant, multisystemic, neurodevelopmental disorder due to alterations in SATB2 at 2q33.1. A limited number of individuals with 2q33.1 contiguous deletions encompassing SATB2 (ΔSAS) have been described in the literature. We describe 17 additional individuals with ΔSAS, review the phenotype of 33 previously published individuals with 2q33.1 deletions (n = 50, mean...

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PMID: 33381861
DOI: 10.1111/cge.13912

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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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