WebLocation Phenotype Phenotype MIM number Inheritance WebRapadilino syndrome Other names Radial and patellar aplasia, ... This is also associated with Rothmund-Thomson syndrome[3] and Baller-Gerold syndrome.[4] References[edit] ^ Kaariainen H, Ryoppy S, Norio R (1989). "Rapadlino syndrome with radial and patellar aplasia/hypoplasia as main manifestations".

Rothmund-Thomson syndrome - PubMed

WebRothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants in ANAPC1 and juvenile cataracts, and type II, with biallelic variants in RECQL4, increased cancer risk and no cataracts. We report on six Brazilian probands and … Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome. media player reagiert nicht

Mutations involved in premature-ageing syndromes - TACG TACG

WebRothmund-Thomson syndrome Bloom and Werner syndrome In adults, osteosarcomas are often considered secondary neoplasms, resulting from one of the following: Irradiation WebOct 1, 2002 · Rothmund-Thomson syndrome (RTS) is an extremely rare genetic disorder characterized by poikilodermatous skin changes, photosensitivity, and an increased risk of developing skin and bone malignancies. In this case report, the dental and periodontal features of RTS in a 16-year-old female patient are presented. http://www.cancerindex.org/Rothmund_Thomson_Syndrome media player rip cd greyed out