TY - CHAP M1 - Book, Section TI - Hirschsprung Disease A1 - Chakravarti, Aravinda A1 - McCallion, Andrew S. A1 - Lyonnet, Stanislas A2 - Valle, David L. A2 - Antonarakis, Stylianos A2 - Ballabio, Andrea A2 - Beaudet, Arthur L. A2 - Mitchell, Grant A. Y1 - 2019 N1 - 10.1036/ommbid.291 T2 - The Online Metabolic and Molecular Bases of Inherited Disease AB - A search for Hirschsprung disease in OMIM under the symbol HSCR reveals 12 entries covering both phenotypes and the specific genes involved. The phenotypes refer to HSCR1 (MIM 142623), largely comprising RET gene mutations; HSCR2 (MIM 600155), comprising EDNRB gene mutations; HSCR3 (MIM 600156), comprising a modifier on chromosome 21; and, congenital failure of autonomic control (MIM 209880). GenBank accession numbers: RET—AL022344, X12949, X15262, AJ243297; GDNF—L19063; EDNRB—D90402, AL139002; EDN3—J05081, AL035250; SOX10—AJ001183, AL031587; NTN—U78110; ECE-1—D43698, AL031005. SN - PB - McGraw-Hill Education CY - New York, NY M3 - doi: 10.1036/ommbid.291 Y2 - 2024/03/29 UR - ommbid.mhmedical.com/content.aspx?aid=1184077089 ER -