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
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
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DOI: 10.1038/s41439-020-0108-0
Abstract: A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons… read more here.
Keywords: tsc2 pkd1; gene syndrome; contiguous gene; molecular diagnosis ... See more keywords
Hypertrophic pyloric stenosis masked by kidney failure in a male infant with a contiguous gene deletion syndrome at Xp22.31 involving the steroid sulfatase gene: case report
Sign Up to like & getrecommendations! Published in 2022 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-022-01218-5
Abstract: Background Contiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene ( STS ) and contiguously located other genes expanding the phenotype. In large… read more here.
Keywords: deletion syndrome; syndrome xp22; contiguous gene; gene ... See more keywords