Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Characteristic or classic phenotype of Cornelia de Lange syndrome (CdLS) is associated with a recognisable facial pattern. However, the heterogeneity in causal genes and the presence of overlapping syndromes have made it increasingly difficult to diagnose only by clinical features. DeepGestalt techn...

Full description

Bibliographic Details
Main Authors: Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, Iñigo Marcos-Alcalde, Ilaria Parenti, Gloria Bueno-Lozano, Antonio Musio, Beatriz Puisac, Frank J. Kaiser, Feliciano J. Ramos, Paulino Gómez-Puertas, Juan Pié
Format: Article
Language:English
Published: MDPI AG 2020-02-01
Series:International Journal of Molecular Sciences
Subjects:
cornelia de lange syndrome
face2gene
facial recognition
deep learning
Online Access:https://www.mdpi.com/1422-0067/21/3/1042

Internet

https://www.mdpi.com/1422-0067/21/3/1042

Similar Items