Dissection of contiguous gene effects for deletions around ERF on chromosome 19
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 to, ERF, of whi...
| Главные авторы: | , , , , , , |
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| Формат: | Journal article |
| Язык: | English |
| Опубликовано: |
Wiley
2021
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