TY - JOUR AU - Cappuccio, Gerarda AU - Rossi, Alessandro AU - Fontana, Paolo AU - Acampora, Emma AU - Avolio, Valeria AU - Merla, Giuseppe AU - Zelante, Leopoldo AU - Secinaro, Aurelio AU - Andria, Generoso AU - Melis, Daniela PY - 2014 DA - 2014/01/28 TI - Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2gene JO - BMC Medical Genetics SP - 15 VL - 15 IS - 1 AB - Kabuki syndrome (KS) is a rare, multiple congenital anomalies/intellectual disability syndrome caused by mutations of MLL2 gene, which codifies for a histone methyltrasferase that regulates the embryogenesis and the tissue development. Left-bronchial isomerism is a rare congenital abnormality that can be defined as the absence of the normal lateralizing features which distinguish right and left-sides in the lungs. To date, this is the first report of left-bronchial isomerism in association with KS. SN - 1471-2350 UR - https://doi.org/10.1186/1471-2350-15-15 DO - 10.1186/1471-2350-15-15 ID - Cappuccio2014 ER -