Article
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Clinical genetics - 1 Mar 2015
Piard J, Aral B, Vabres P, Holder-Espinasse M, Mégarbané A, Gauthier S, Capra V, Pierquin G, Callier P, Baumann C, Pasquier L, Baujat G, Martorell L, Rodriguez A, Brady A F, Boralevi F, González-Enseñat M A, Rio M, Bodemer C, Philip N, Cordier M-P, Goldenberg A, Demeer B, Wright M, Blair E, Puzenat E, Parent P, Sznajer Y, Francannet C, DiDonato N, Boute O, Barlogis V, Moldovan O, Bessis D, Coubes C, Tardieu M, Cormier-Daire V, Sousa A B, Franques J, Toutain A, Tajir M, Elalaoui S C, Geneviève D, Thevenon J, Courcet J-B, Rivière J-B, Collet C, Gigot N, Faivre L, Thauvin-Robinet C
Abstract excerpt
Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4...
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