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- W2965804920 abstract "3MC sendromu tipik yüz bulguları, yarık dudak/damak, boy kısalığı, gelişme geriliği, umblikal defekt, genitoüriner ve sakral anomaliler ile seyreden, nadir görülen, otozomal resesif geçiş gösteren bir sendromdur. 3MC sendromlu hastalarda, doğal immun sistemin lektin kompleman yolağında görev alan proteinleri kodlayan MASP1, COLEC11 ve COLEC10 genlerinde mutasyonlar saptanmıştır. Bu yazıda, MASP1 geni mutasyon analizi ile tanısı doğrulanan 3MC sendromlu 2 yaşındaki bir erkek hasta sunulmuştur." @default.
- W2965804920 created "2019-08-13" @default.
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- W2965804920 date "2019-08-01" @default.
- W2965804920 modified "2023-09-23" @default.
- W2965804920 title "3MC sendromu: Bir olgu sunumu" @default.
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- W2965804920 doi "https://doi.org/10.25000/acem.505975" @default.
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