Malformations

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations
Caroline Schluth-Bolard, Audrey Labalme, Marie-Pierre Cordier, Marianne Till, Gwenaël Nadeau, Hélène Tevissen, Gaétan Lesca, Nadia Boutry-Kryza, Sylvie Rossignol, Delphine Rocas, Estelle Dubruc, Patrick Edery, Damien Sanlaville

Journal of Medical Genetics Mar 2013, 50 (3) 144-150; DOI: 10.1136/jmedgenet-2012-101351

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Malformations