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Article

Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.

American journal of medical genetics. Part A - 1 Mar 2022

Li Dong, Downes Helen, Hou Cuiping, Hakonarson Hakon, Zackai Elaine H, Schrier Vergano Samantha A, Bhoj Elizabeth J

Abstract excerpt

BAFopathies are a heterogenous group of neurodevelopmental disorders caused by mutations in genes encoding subunits of the BAF complex, and they exhibit a broad clinical phenotypic spectrum. Pathogenic heterozygous variants in SMARCC2 have been implicated in Coffin-Siris syndrome 8 (MIM 618362) with variable neurodevelopmental presentations. We report here two relatively severely affected patients with two...

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PMID: 34881817
DOI: 10.1002/ajmg.a.62597

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