“…Through linkage mapping and mouse model analysis, a series of susceptible genes were found to contribute to the development of the ENS, including RET (OMIM 164761), EDNRB (OMIM 131244), GDNF (OMIM 600837), ECE1 (OMIM 164761), NRTN (OMIM 602018), PHOX2B (OMIM 603851), SOX10 (OMIM 602229), EDN3 (OMIM 131242), ZFHX1B (OMIM 605802), L1CAM (OMIM 308840), TCF4 (OMIM 602272), and KBP10 (OMIM 609367)6910111213141516171819. These genes encode transcription factors, receptors, ligands, and other cellular elements involved in the development of ENS20. During the past several years, studies have revealed molecular anomalies or novel genes associated with HSCR, such as copy number variation521, polymorphisms in the 3′ untranslated region22, and gene-gene interactions23, as well as microRNA interactions24.…”