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Updated: Apr 12, 2026

Generating CRISPR/Cas9 Mediated Monoallelic Deletions to Study Enhancer Function in Mouse Embryonic Stem Cells
Published on: April 2, 2016
[Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay]
Ignacio Arroyo-Carrera1, M Solo de Zaldívar-Tristancho, Rebeca Martín-Fernández
1Hospital San Pedro de Alcantara, 10003 Caceres, Espana.
Introduction:
The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system.
Case Report:
We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 deletion involving SOX5.
Conclusions:
We review the reported cases, intragenic SOX5 deletions and larger 12p12 deletions encompassing SOX5. We analyze the genotype-phenotype associations and the genes involved in our patient.
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