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Article

[Microdeletion 12p12 involving SOX5 gene: a new syndrome with developmental delay].

Revista de neurologia - 16 May 2015

Arroyo-Carrera Ignacio, de Zaldívar-Tristancho M Solo, Martín-Fernández Rebeca, Hernández-Martín Raquel, López-Lafuente Amparo, Rodríguez-Revenga Laia

Abstract excerpt

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...

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Identifiers

PMID: 25952600

Genes

SOX5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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