Jun 03, 2019
The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. It has been associated with Lamb-Shaffer syndrome, which is characterized by global developmental delay, intellectual disability, speech delay and mild dysmorphic facial features (Lamb et al., 2012).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
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