Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes
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C. Dangoisse | L. Larizza | Y. Sznajer | M. Kestilä | S. Tenoutasse | G. Roversi | F. Ziereisen | M. Scaillon | H. A. Siitonen