Mak Y F, Ponder B A
CRC Human Cancer Genetics Group, University of Cambridge, UK.
Curr Opin Genet Dev. 1996 Feb;6(1):82-6. doi: 10.1016/s0959-437x(96)90015-5.
RET mutations have been identified as the underlying cause of two congenital diseases that predominately affect tissues of neural crest origin: the MEN 2 cancer syndromes and a proportion of cases of dominantly inherited Hirschsprung disease, a disorder of gut development. This review summarizes the disease-causing mutations and our present understanding of their possible effects on RET protein function.
