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Published in 2021 at "Human Mutation"
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…
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Keywords:
deletions around;
contiguous gene;
gene effects;
gene ... See more keywords