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- W2020705910 abstract "We report on somatic mosaicism of a TGFBR2 missense mutation, c.1336G>A (D446N). The affected son with the heterozygous mutation was previously reported [Sakai et al. (2006); Am J Med Genet A 140A:1719-1725]. Further evaluation indicates his clinical condition is Loeys-Dietz syndrome. Parental blood samples were studied to confirm whether the propositus' mutation was a de novo change, and suggested a trace of the mutation in the father. DNAs extracted from blood leukocytes, buccal cells, hair root cells, and nails in the father indicated 52%, 25%, 0%, and 35% of cells harbored the mutation, respectively. This is the first detailed report of somatic mosaicism of a TGFBR2 mutation." @default.
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- W2020705910 date "2008-12-01" @default.
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- W2020705910 title "Paternal somatic mosaicism of a<i>TGFBR2</i>mutation transmitting to an affected son with Loeys-Dietz syndrome" @default.
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- W2020705910 doi "https://doi.org/10.1002/ajmg.a.32567" @default.
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