Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

✍ Scribed by Schluth-Bolard, Caroline (author);Labalme, Audrey (author);Cordier, Marie Pierre (author);Till, Marianne (author);Nadeau, Gwenaël (author);Tevissen, Hélène (author);Lesca, Gaétan (author);Boutry-Kryza, Nadia (author);Rossignol, Sylvie (author);Rocas, Delphine (author);Dubruc, Estelle (author);Edery, Patrick (author);Sanlaville, Damien (author)

• Book ID: 118265380
• Publisher: BMJ Publishing Group
• Year: 2013
• Tongue: English
• Weight: 424 KB
• Volume: 50
• Category: Article
• ISSN: 0022-2593
• DOI: 10.1136/jmedgenet-2012-101351