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

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 We report 25 unpublished individuals from 22 families with molecularly confirmed diagnoses. Twel...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626563/
https://www.ncbi.nlm.nih.gov/pubmed/35970914
http://dx.doi.org/10.1038/s41431-022-01171-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9626563/
https://www.ncbi.nlm.nih.gov/pubmed/35970914
http://dx.doi.org/10.1038/s41431-022-01171-1

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