KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 n...
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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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 We report 25 unpublished individuals from 22 families with molecularly confirmed diagnoses.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...
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KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients
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TN_cdi_proquest_journals_2730909336
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2730909336
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ISSN
1018-4813,1476-5438
E-ISSN
1476-5438
DOI
10.1038/s41431-022-01171-1
