Article

KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping in 25 New Patients

2021-11-23

Abstract excerpt

Genetic variants in the gene Ankyrin Repeat Domain 11 ( ANKRD11 ) and deletions in 16q24.3 are known to cause KBG syndrome, a rare syndrome associated with craniofacial, intellectual, and neurobehavioral anomalies. We report 25 unpublished individuals from 22 families, all with molecularly confirmed diagnoses of KBG syndrome. Twenty-one individuals have de novo variants, three have inherited variants, and one is i...

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Literature Corpus work: 314180b7-4fd0-52b2-9421-e44fa521640b
DOI: 10.1101/2021.11.18.21266480

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