De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
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DOI: 10.1016/j.ajhg.2018.12.014
Abstract: SOX4, together with SOX11 and SOX12, forms group C of SRY-related (SOX) transcription factors. They play key roles, often in redundancy, in multiple developmental pathways, including neurogenesis and skeletogenesis. De novo SOX11 heterozygous mutations have… read more here.
Keywords: associated mild; sox4 variants; variants cause; sox4 ... See more keywords