Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt-Reference-Cited by-同舟云学术

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

Published:2021-11-22 Issue: Volume: Page:
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

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^ORCID,Dieterich Klaus^ORCID,Brischoux-Boucher Elise,Julia Sophie,Nizon Mathilde^ORCID,Afenjar Alexandra,Keren Boris,Jacquette Aurelia,Moutton Sebastien^ORCID,Jacquemont Marie-Line,Duflos Claire^ORCID,Capri Yline,Amiel Jeanne,Blanchet Patricia,Lyonnet Stanislas,Sanlaville Damien,Genevieve David^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-021-00994-8.pdf

Reference21 articles.

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2. Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, et al. Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome. Am J Hum Genet. 2012;90:119–24.

3. Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat. 2013;34:108–10.

4. Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, et al. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2. Hum Mutat. 2016;37:847–64.

5. Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BWM, Willemsen MH, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature. 2014;511:344–7.

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