A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis

BMC Medical Genetics

Volumn 16, Issue 1, 2015, Pages

  Dello Russo, Patrizia ^a   Franzoni, Alessandra ^a   Baldan, Federica ^b   Puppin, Cinzia ^b   De Maglio, Giovanna ^a   Pittini, Carla ^a   Cattarossi, Luigi ^a   Pizzolitto, Stefano ^a   Damante, Giuseppe ^a,b  

^a SANTA MARIA DELLA MISERICORDIA UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF UDINE   (Italy)

Author keywords

Chromosomal abnormalities; Deletion; Gene regulation; Pulmonary capillary hemangiomatosis

Indexed keywords

CD31 ANTIGEN; FORKHEAD TRANSCRIPTION FACTOR; FOXF1 PROTEIN, HUMAN;

ARTICLE; AUTOPSY; BRADYCARDIA; CAPILLARY PROLIFERATION; CASE REPORT; CHROMOSOME 16Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; ENHANCER REGION; FOXF1 GENE; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOME IMPRINTING; HEART FAILURE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KARYOTYPING; LOSS OF FUNCTION MUTATION; LUNG CONGESTION; LUNG EDEMA; MALE; NEWBORN; POLYMERASE CHAIN REACTION; PULMONARY CAPILLARY HEMANGIOMATOSIS; RESPIRATORY DISTRESS; CHROMOSOME 16; GENE DELETION; GENETICS; MORTALITY; PATHOLOGY; PROCEDURES; PULMONARY HYPERTENSION;

CHROMOSOMES, HUMAN, PAIR 16; COMPARATIVE GENOMIC HYBRIDIZATION; ENHANCER ELEMENTS, GENETIC; FORKHEAD TRANSCRIPTION FACTORS; GENE DELETION; GENOMIC IMPRINTING; HUMANS; HYPERTENSION, PULMONARY; INFANT, NEWBORN; MALE;

EID: 84944065342     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-015-0241-7     Document Type: Article

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