Tilghman et al., 2019 - Molecular Genetic Anatomy and Risk Profile of Hirschsprung's Disease. The New England Journal of Medicine   380:1421-1432 Full text @ N. Engl. J. Med.
10 Genes / Markers
Marker Type Symbol Name
Gene acss2 acyl-CoA synthetase short chain family member 2
Gene ednrba endothelin receptor Ba
Gene ednrbb endothelin receptor type Bb
Gene eno3 enolase 3, (beta, muscle)
Gene mmaa metabolism of cobalamin associated A
Gene ret ret proto-oncogene receptor tyrosine kinase
Gene selenou1a selenoprotein U 1a
Gene sh3pxd2aa SH3 and PX domains 2Aa
Gene slc27a4 solute carrier family 27 member 4
Gene ubr4 ubiquitin protein ligase E3 component n-recognin 4
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