Dissection of contiguous gene effects for deletions around ERF on chromosome 19
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DOI: 10.1002/humu.24213
Abstract: Heterozygous intragenic loss‐of‐function mutations of ERF, encoding an ETS transcription factor, were previously reported to cause a novel craniosynostosis syndrome, suggesting that ERF is haploinsufficient. We describe six families harboring heterozygous deletions including, or near… read more here.
Keywords: deletions around; contiguous gene; gene effects; gene ... See more keywords