Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 ges...
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
About this item
Full title
Author / Creator
Rouxel, Flavien , Yauy, Kevin , Boursier, Guilaine , Gatinois, Vincent , Barat-Houari, Mouna , Sanchez, Elodie , Lacombe, Didier , Arpin, Stéphanie , Giuliano, Fabienne , Haye, Damien , Rio, Marlène , Toutain, Annick , Dieterich, Klaus , Brischoux-Boucher, Elise , Julia, Sophie , Nizon, Mathilde , Afenjar, Alexandra , Keren, Boris , Jacquette, Aurelia , Moutton, Sebastien , Jacquemont, Marie-Line , Duflos, Claire , Capri, Yline , Amiel, Jeanne , Blanchet, Patricia , Lyonnet, Stanislas , Sanlaville, Damien and Genevieve, David
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Kabuki syndrome (KS) is a rare genetic disorder caused by mutations in two major genes, KMT2D and KDM6A, that are responsible for Kabuki syndrome 1 (KS1, OMIM147920) and Kabuki syndrome 2 (KS2, OMIM300867), respectively. We lack a description of clinical signs to distinguish KS1 and KS2. We used facial morphology analysis to detect any facial morph...
Alternative Titles
Full title
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
Authors, Artists and Contributors
Author / Creator
Yauy, Kevin
Boursier, Guilaine
Gatinois, Vincent
Barat-Houari, Mouna
Sanchez, Elodie
Lacombe, Didier
Arpin, Stéphanie
Giuliano, Fabienne
Haye, Damien
Rio, Marlène
Toutain, Annick
Dieterich, Klaus
Brischoux-Boucher, Elise
Julia, Sophie
Nizon, Mathilde
Afenjar, Alexandra
Keren, Boris
Jacquette, Aurelia
Moutton, Sebastien
Jacquemont, Marie-Line
Duflos, Claire
Capri, Yline
Amiel, Jeanne
Blanchet, Patricia
Lyonnet, Stanislas
Sanlaville, Damien
Genevieve, David
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9177756
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9177756
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-021-00994-8
