Gerarda Cappuccio Alessandro Rossi Paolo Fontana Emma Acampora Valeria Avolio Giuseppe Merla Leopoldo Zelante Aurelio Secinaro Generoso Andria Daniela Melis
10.1186/1471-2350-15-15
BMC Med Genet
2014 Jan 28;15:15.
CC BY
https://pubmed.ncbi.nlm.nih.gov/24472332/
Abnormalities, Multiple / genetics DNA-Binding Proteins / genetics Face / abnormalities Hematologic Diseases / genetics Lung / abnormalities Mutation Neoplasm Proteins / genetics Vestibular Diseases / genetics
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
PMC3925134
24472332
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene
2014