Ontology highlight
ABSTRACT:
SUBMITTER: Siitonen HA
PROVIDER: S-EPMC2986053 | biostudies-literature | 2009 Feb
REPOSITORIES: biostudies-literature
Siitonen H Annika HA Sotkasiira Jenni J Biervliet Martine M Benmansour Abdelmadjid A Capri Yline Y Cormier-Daire Valerie V Crandall Barbara B Hannula-Jouppi Katariina K Hennekam Raoul R Herzog Denise D Keymolen Kathelijn K Lipsanen-Nyman Marita M Miny Peter P Plon Sharon E SE Riedl Stefan S Sarkar Ajoy A Vargas Fernando R FR Verloes Alain A Wang Lisa L LL Kääriäinen Helena H Kestilä Marjo M
European journal of human genetics : EJHG 20080820 2
Mutations in the RECQL4 gene can lead to three clinical phenotypes with overlapping features. All these syndromes, Rothmund-Thomson (RTS), RAPADILINO and Baller-Gerold (BGS), are characterized by growth retardation and radial defects, but RAPADILINO syndrome lacks the main dermal manifestation, poikiloderma that is a hallmark feature in both RTS and BGS. It has been previously shown that RTS patients with RECQL4 mutations are at increased risk of osteosarcoma, but the precise incidence of cancer ...[more]