Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

RT @studyrare: Multicentric Carpotarsal Osteolysis (MCTO) is caused by mutations in the gene MAFB, a transcription factor. MCTO may be misd…

Multicentric Carpotarsal Osteolysis (MCTO) is caused by mutations in the gene MAFB, a transcription factor. MCTO may be misdiagnosed as juvenile rheumatoid arthritis. The "osteolysis of proximal metacarpals" mentioned on XR is the "C" & "O" in "MCTO".

MAFB; Confirmed DD Gene; 10107; MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MCTO; Monoallelic; Activating; http://t.co/t6cZODOx

RT @EvgenyGlazov: Our AJHG paper implicating MAFB mutations in MCTO is online http://t.co/waea4Ed3 Big thanks to the participants. #raredisease #sequencing