{"title":"3MC综合征1例报告","authors":"Seda Çakmaklı, Yaşar Kandur","doi":"10.25000/ACEM.505975","DOIUrl":null,"url":null,"abstract":"3MC sendromu tipik yuz bulgulari, yarik dudak/damak, boy kisaligi, gelisme geriligi, umblikal defekt, genitouriner ve sakral anomaliler ile seyreden, nadir gorulen, otozomal resesif gecis gosteren bir sendromdur. 3MC sendromlu hastalarda, dogal immun sistemin lektin kompleman yolaginda gorev alan proteinleri kodlayan MASP1, COLEC11 ve COLEC10 genlerinde mutasyonlar saptanmistir. Bu yazida, MASP1 geni mutasyon analizi ile tanisi dogrulanan 3MC sendromlu 2 yasindaki bir erkek hasta sunulmustur.","PeriodicalId":8220,"journal":{"name":"ARCHIVES OF CLINICAL AND EXPERIMENTAL MEDICINE","volume":"152 ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2019-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"4","resultStr":"{\"title\":\"3MC syndrome: A case report\",\"authors\":\"Seda Çakmaklı, Yaşar Kandur\",\"doi\":\"10.25000/ACEM.505975\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"3MC sendromu tipik yuz bulgulari, yarik dudak/damak, boy kisaligi, gelisme geriligi, umblikal defekt, genitouriner ve sakral anomaliler ile seyreden, nadir gorulen, otozomal resesif gecis gosteren bir sendromdur. 3MC sendromlu hastalarda, dogal immun sistemin lektin kompleman yolaginda gorev alan proteinleri kodlayan MASP1, COLEC11 ve COLEC10 genlerinde mutasyonlar saptanmistir. Bu yazida, MASP1 geni mutasyon analizi ile tanisi dogrulanan 3MC sendromlu 2 yasindaki bir erkek hasta sunulmustur.\",\"PeriodicalId\":8220,\"journal\":{\"name\":\"ARCHIVES OF CLINICAL AND EXPERIMENTAL MEDICINE\",\"volume\":\"152 \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ARCHIVES OF CLINICAL AND EXPERIMENTAL MEDICINE\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.25000/ACEM.505975\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ARCHIVES OF CLINICAL AND EXPERIMENTAL MEDICINE","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.25000/ACEM.505975","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
3MC sendromu tipik yuz bulgulari, yarik dudak/damak, boy kisaligi, gelisme geriligi, umblikal defekt, genitouriner ve sakral anomaliler ile seyreden, nadir gorulen, otozomal resesif gecis gosteren bir sendromdur. 3MC sendromlu hastalarda, dogal immun sistemin lektin kompleman yolaginda gorev alan proteinleri kodlayan MASP1, COLEC11 ve COLEC10 genlerinde mutasyonlar saptanmistir. Bu yazida, MASP1 geni mutasyon analizi ile tanisi dogrulanan 3MC sendromlu 2 yasindaki bir erkek hasta sunulmustur.
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