Article

Elucidating the clinical and molecular spectrum of<i>SMARCC2</i>-associated NDD in a cohort of 65 affected individuals

2023-04-03

Abstract excerpt

<h4>ABSTRACT</h4> <h4>PURPOSE</h4> Coffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort. <h4>METHODS</h4> Clinical symptoms for 41 novel and 24 previously published cases were analyzed using the Human Phenotype O...

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Literature Corpus work: aa7d9182-5ccf-57d8-b0bc-a5b05d72adfc
DOI: 10.1101/2023.03.30.23287962

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