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

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Cappuccio, Gerarda ^a   Rossi, Alessandro ^a   Fontana, Paolo ^a   Acampora, Emma ^a   Avolio, Valeria ^a   Merla, Giuseppe ^b   Zelante, Leopoldo ^b   Secinaro, Aurelio ^c   Andria, Generoso ^a   Melis, Daniela ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Isomerism; Kabuki syndrome; Respiratory distress

Indexed keywords

ABNORMALITIES, MULTIPLE; CYTOGENETIC ANALYSIS; DNA-BINDING PROTEINS; EXONS; FACE; FEMALE; HEMATOLOGIC DISEASES; HUMANS; HYPOGLYCEMIA; INFANT; INFANT, NEWBORN; LUNG; MALE; MUTATION; NEOPLASM PROTEINS; PREGNANCY; SEQUENCE DELETION; VESTIBULAR DISEASES;

EID: 84892922411     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-15     Document Type: Article

References (22)

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