Condition: Cutaneous Mastocytosis
rs121913506 in
KIT gene and
Cutaneous Mastocytosis
PMID 19865100 2010 Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations.
PMID 24289326 2014 A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.
PMID 9990072 1999 Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.
PMID 15173254 2004 A germline mutation in KIT in familial diffuse cutaneous mastocytosis.
PMID 21689725 2011 Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis.