Article

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

2022-04-18

Abstract excerpt

<h4>SUMMARY</h4> <h4>Background</h4> KBG syndrome is a highly variable neurodevelopmental disorder and clinical diagnostic criteria have changed as new patients have been published. Both loss-of-function sequence variants and large deletions (CNVs) involving ANKRD11 have been involved in KBG, but no genotype-phenotype correlation has been reported to date. This study presents the clinical and molecular characteris...

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Literature Corpus work: f92ac60d-41a4-56f8-8a12-95feac409a10
DOI: 10.1101/2022.04.11.22271283

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