Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene

BACKGROUND: 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 abnorm...

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Detalles Bibliográficos
Autores principales: Cappuccio, Gerarda, Rossi, Alessandro, Fontana, Paolo, Acampora, Emma, Avolio, Valeria, Merla, Giuseppe, Zelante, Leopoldo, Secinaro, Aurelio, Andria, Generoso, Melis, Daniela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925134/
https://www.ncbi.nlm.nih.gov/pubmed/24472332
http://dx.doi.org/10.1186/1471-2350-15-15

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925134/
https://www.ncbi.nlm.nih.gov/pubmed/24472332
http://dx.doi.org/10.1186/1471-2350-15-15

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