Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

• Váldodahkkit: González Eva (Dahkki), Vilardell Mireia (Dahkki), del Campo Miguel (Dahkki), Cuscó Ivon (Dahkki), Gener Blanca (Dahkki), Galán Enrique (Dahkki), Toledo Laura (Dahkki), Pérez-Jurado Luis A (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2008-04-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with p...