Elsa Lucas-Castro

4PUBLICATIONS
17CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Medical bacteriologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (4)

|Nov 03, 2026
A Novel Deep-Intronic Variant in HES7 Unveils a Poison Exon Mechanism Underlying Spondylocostal Dysostosis.

|May 02, 2026
Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type.

|Sep 30, 2025
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Elsa Lucas-Castro, Francisca Diaz-González, Silvia Modamio-Høybjor

|Jun 25, 2024
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.

Francisca Díaz-González, Lucía Sentchordi-Montané, Elsa Lucas-Castro

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Frequent Collaborators

4 joint publications

Karen E Heath

3 joint publications

Francisca Díaz-González

3 joint publications

Silvia Modamio-Høybjør

2 joint publications

Manuel Parrón-Pajares