Neonatal marfan syndrome: Unusually large deletion of exons 2426 of FBN1 associated with poor prognosis

Klinische Padiatrie

Volumn 222, Issue 4, 2010, Pages 261-263

  Apitz, C ^a   MacKensen Haen, S ^b   Girisch, M ^a   Kerst, G ^a   Wiegand, G ^a   Stuhrmann, M ^c   Niethammer, K ^d   Behrwind, G ^d   Hofbeck, M ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d Städtische Kinderklinik Esslingen   (Germany)

Author keywords

deletion; FBN1 gene; molecular genetics; neonatal Marfan syndrome; pediatrics

Indexed keywords

ADRENALIN; DOBUTAMINE; FIBRILLIN 1; MILRINONE;

ARTICLE; AUTOPSY; CASE REPORT; CHILD HEALTH; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; DOPPLER ECHOCARDIOGRAPHY; EXON; GENE DELETION; GENETIC ASSOCIATION; HEART FAILURE; HUMAN; MARFAN SYNDROME; NEWBORN; NEWBORN DISEASE; PHENOTYPE; PNEUMOPERICARDIUM; PNEUMOTHORAX; PROGNOSIS; PULMONARY VALVE ATRESIA; SURGICAL DRAINAGE; THORAX RADIOGRAPHY; TRICUSPID VALVE REGURGITATION;

EID: 77954951013     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0030-1247510     Document Type: Article

References (10)

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