Study Detail

TitleBlue Rubber Bleb Nevus (BRBN) Syndrome is caused by Somatic Double-Mutations in TEK
Study TypeOther
Abstract Blue Rubber Bleb Nevus syndrome (Bean syndrome, BRBN) is a rare, severe congenital disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations (VMs); gastrointestinal lesions are pathognomonic. We discovered somatic TEK mutations in 15 of 17 individuals with BRBN .. [more]
Description Blue Rubber Bleb Nevus syndrome (Bean syndrome, BRBN) is a rare, severe congenital disorder of unknown cause, characterized by numerous cutaneous and internal venous malformations (VMs); gastrointestinal lesions are pathognomonic. We discovered somatic TEK mutations in 15 of 17 individuals with BRBN .. [more]
Center NameDe Duve Institute