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- W2769488701 abstract "We report RNA‐Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis‐related genes. Genetic burden analysis identified a significant increase in damaging variants in ATR , EFNA4 , ERF , MEGF8 , SCARF2 , and TGFBR2 . Of 391 participants, 15% were found to have damaging and potentially causal variants in 29 genes. We observed transmission in 96% of the affected individuals, and thus penetrance, epigenetics, and oligogenic factors need to be considered when recommending genetic testing in patients with nonsyndromic craniosynostosis." @default.
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- W2769488701 date "2017-11-23" @default.
- W2769488701 modified "2023-10-15" @default.
- W2769488701 title "Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms" @default.
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- W2769488701 doi "https://doi.org/10.1002/ajmg.a.38540" @default.
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