Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

Am J Med Genet A. 2017 Nov;173(11):3104-3108. doi:10.1002/ajmg.a.38407. Epub 2017 Sep 08

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We present a 4-year-old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring an intragenic deletion in the ARID2 gene. The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. However, our patient showed overlapping features with Nicolaides-Baraitser syndrome and Coffin-Siris syndrome, providing further arguments to reclassify these disorders as "SWI/SNF-related intellectual disability syndromes."

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Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability.

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