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Article

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.

European journal of human genetics : EJHG - 1 Nov 2022

Guo Lily, Park Jiyeon, Yi Edward, Marchi Elaine, Hsieh Tzung-Chien, Kibalnyk Yana, Moreno-Sáez Yolanda, Biskup Saskia, Puk Oliver, Beger Carmela, Li Quan, Wang Kai, Voronova Anastassia, Krawitz Peter M, Lyon Gholson J

Abstract excerpt

Genetic variants in 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 We report 25 unpublished individuals from 22 families with molecularly confirmed diagnoses. Twelve individuals have de novo variants, three have inherited variants, and one is inherited from a parent with...

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Identifiers

PMID: 35970914
DOI: 10.1038/s41431-022-01171-1
PMCID: PMC9626563

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