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Article

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

International journal of molecular sciences - 4 Feb 2020

Latorre-Pellicer Ana, Ascaso Ángela, Trujillano Laura, Gil-Salvador Marta, Arnedo Maria, Lucia-Campos Cristina, Antoñanzas-Pérez Rebeca, Marcos-Alcalde Iñigo, Parenti Ilaria, Bueno-Lozano Gloria, Musio Antonio, Puisac Beatriz, Kaiser Frank J, Ramos Feliciano J, Gómez-Puertas Paulino, Pié Juan

Abstract excerpt

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 technology, and its app Face2Gene, is having a growing impact on the diagnosis and management of genetic diseases by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32033219
DOI: 10.3390/ijms21031042
PMCID: PMC7038094

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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