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• W2208559487 abstract "To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), including a variant in a new candidate gene, syntaxin 7. In view of this high frequency, revision of diagnostic strategies and reoccurrence risk should be considered not only for the recurrent forms, but also for the sporadic cases of MCD." @default.
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• W2208559487 date "2015-09-23" @default.
• W2208559487 modified "2023-10-18" @default.
• W2208559487 title "Mosaic parental germline mutations causing recurrent forms of malformations of cortical development" @default.
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• W2208559487 doi "https://doi.org/10.1038/ejhg.2015.192" @default.
• W2208559487 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4929884" @default.
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