Translocation t(17;22)(q22;q13) with PDGF
Osteogenesis imperfecta, particular III, disease:A great chromosomal aberration of COL1A1 are a factor in dermatofibrosarcoma protuberans (DFSP) [MIM:607907]. DFSP is an uncommon, in your town competitive, but hardly metastasizing cyst of the deep dermis and subcutaneous cells. It typically occurs while in the very early otherwise middle mature existence and is frequently located on the trunk and you will proximal extremities. EDS was a connective tissues disease described as hyperextensible skin, atrophic cutaneous marks due to structure fragility and you may joint hyperlaxity.