A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele. Sironi A, Bestetti I, Masciadri M, Tumiatti F, Crippa M, Pantaleoni C, Russo S, D'Arrigo S, Milani D, Larizza L, Finelli P European journal of human genetics : EJHG
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB European journal of human genetics : EJHG
