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Patient with confirmed LEOPARD syndrome developing multiple melanoma by Colmant Caroline, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
Published 2018-01-01
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Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia by Alice Costantini, Jessica J. Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N. Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J. Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outi Mäkitie
Published 2020-10-01
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