Francisca Diaz-Gonzalez

7PUBLICATIONS
21CO-AUTHORS
Medical bacteriologyGene expression (incl. microarray and other genome-wide approaches)Molecular imaging (incl. electron microscopy and neutron diffraction)Adolescent healthEpigenetics (incl. genome methylation and epigenomics)
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Publications (7)

|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

|Oct 03, 2023
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.

Ozlem Akgun-Dogan, Francisca Díaz-González, Alexander Augusto de Lima Jorge

|Apr 30, 2023
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro

|Nov 16, 2021
Variable skeletal phenotypes associated with biallelic variants in PRKG2.

Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero

|Sep 13, 2021
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Lucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona

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Frequent Collaborators

7 joint publications

Karen E Heath

4 joint publications

Lucia Sentchordi-Montané

4 joint publications

Silvia Modamio-Høybjør

3 joint publications

Manuel Parrón-Pajares