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Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.
Jaillard S, Loget P, Lucas J, Dubourg C, Le Bouar G, Demurger F, Bertorello I, David V, Poulain P, Odent S, Belaud-Rotureau MA. Jaillard S, et al. Among authors: bertorello i. Eur J Med Genet. 2011 Mar-Apr;54(2):186-8. doi: 10.1016/j.ejmg.2010.11.001. Epub 2010 Nov 27. Eur J Med Genet. 2011. PMID: 21115145
[Severe hypoplastic left heart syndrome: palliative care after prenatal diagnosis].
Noseda C, Mialet-Marty T, Basquin A, Letourneur I, Bertorello I, Charlot F, Le Bouar G, Bétrémieux P; Collaborateurs. Noseda C, et al. Among authors: bertorello i. Arch Pediatr. 2012 Apr;19(4):374-80. doi: 10.1016/j.arcped.2012.01.022. Epub 2012 Mar 5. Arch Pediatr. 2012. PMID: 22397767 French.