RT Book, Section
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.
SR Print(0)
ID 1184077089
T1 Hirschsprung Disease
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1184077089
RD 2024/04/19
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.