Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features.

Abstract

The SOX5 gene encodes a transcription factor involved in the regulation of nervous system development and chondrogenesis. This article reports on two cases of 12p12.1 deletion involving SOX5 presenting with global developmental delay, intellectual disability, expressive language delay, mild motor impairment, distinct features, and multiorgan involvement… (More)
DOI: 10.1016/j.pediatrneurol.2012.12.013

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Cite this paper

@article{Lee2013Deletion1I, title={Deletion 12p12 involving SOX5 in two children with developmental delay and dysmorphic features.}, author={Ryan W. Y. Lee and Joann Bodurtha and Julie Cohen and Ali S Fatemi and Denise A. S. Batista}, journal={Pediatric neurology}, year={2013}, volume={48 4}, pages={317-20} }