Do RET somatic mutations play a role in Hirschsprung disease?
نویسندگان
چکیده
منابع مشابه
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A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosp...
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متن کامل1 TITLE : TTF - 1 and RET promoter SNPs : regulation of RET transcription in Hirschsprung ' s disease
Single nucleotide polymorphisms (SNPs) of the coding regions of RET are associated with Hirschsprung’s disease (HSCR, aganglionic megacolon,). These SNPs, individually or combined, may act as a low penetrance susceptibility locus or/and be in linkage disequilibrium (LD) with another susceptibility locus located in RET regulatory regions. Because two RET promoter SNPs have been found associated ...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2018
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2018.6