article_metadata: Gerarda Cappuccio Alessandro Rossi Paolo Fontana Emma Acampora Valeria Avolio Giuseppe Merla Leopoldo Zelante Aurelio Secinaro Generoso Andria Daniela Melis
article_metadata: 10.1186/1471-2350-15-15
article_metadata: BMC Med Genet
article_metadata: 2014 Jan 28;15:15.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/24472332/
article_metadata: Abnormalities, Multiple / genetics DNA-Binding Proteins / genetics Face / abnormalities Hematologic Diseases / genetics Lung / abnormalities Mutation Neoplasm Proteins / genetics Vestibular Diseases / genetics
article_metadata: Abnormalities, Multiple / genetics DNA-Binding Proteins / genetics Face / abnormalities Hematologic Diseases / genetics Lung / abnormalities Mutation Neoplasm Proteins / genetics Vestibular Diseases / genetics Case Reports Research Support, Non-U.S. Gov't Cytogenetic Analysis Exons / genetics Female Hematologic Diseases / complications Humans Hypoglycemia / complications Infant Infant, Newborn Male Pregnancy Sequence Deletion Vestibular Diseases / complications DNA-Binding Proteins KMT2D protein, human Neoplasm Proteins Kabuki syndrome
article_metadata: PMC3925134
article_metadata: 24472332
article_metadata: Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene
article_metadata: 2014