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Suter, Aude-Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina (2016). Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine, 4(3), pp. 359-366. Wiley 10.1002/mgg3.209
Dettmer, Matthias; Itin, Peter; Miny, Peter; Gandhi, Manoj; Cathomas, Gieri; Willi, Niels (2011). Giant ectopic liver, hepatocellular carcinoma and pachydermia-a rare genetic syndrome? Diagnostic pathology, 6(75), p. 75. BioMed Central 10.1186/1746-1596-6-75
