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• W2468374584 abstract "We describe two sibling fetuses with urogenital abnormalities detected by prenatal ultrasound, in which post-delivery examination showed split hand and foot malformation, and bilateral cleft lip and palate. These findings are consistent with ectrodactyly-ectodermal dysplasia-cleft lip with or without cleft palate syndrome (EEC). Both fetuses were found to have the same missense mutation in TP63 (c.1051G > A; p.D351N). Parental clinical examinations and lymphocyte DNA analyses were normal. This report illustrates the potential severity of urogenital defects in TP63-related disorders, which may be detectable with fetal ultrasonography. It highlights the need to counsel for the possibility of germline mosaicism in TP63-associated disorders. © 2016 Wiley Periodicals, Inc." @default.
• W2468374584 created "2016-07-22" @default.
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• W2468374584 date "2016-06-28" @default.
• W2468374584 modified "2023-10-17" @default.
• W2468374584 title "Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for<i>TP63</i>mutation" @default.
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• W2468374584 doi "https://doi.org/10.1002/ajmg.a.37816" @default.
• W2468374584 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27351625" @default.
• W2468374584 hasPublicationYear "2016" @default.
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