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...

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Vydáno v:Int J Mol Sci
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7038094/
https://ncbi.nlm.nih.gov/pubmed/32033219
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21031042
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