A novel mutation of the fibrillin-1 gene in a newborn with severe Marfan syndrome

Journal of Perinatology

Volumn 28, Issue 4, 2008, Pages 303-305

  Kochilas, L ^a,b   Gundogan, F ^b,c   Atalay, M ^b,d   Bliss, J M ^b,c   Vatta, M ^e   Pena, L S ^e   Abuelo, D ^a,b  

^a HASBRO CHILDREN'S HOSPITAL   (United States)

^b BROWN UNIVERSITY   (United States)

^c WOMEN AND INFANTS HOSPITAL   (United States)

^d RHODE ISLAND HOSPITAL   (United States)

^e TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CAPTOPRIL; CYSTEINE; DIURETIC AGENT; EPIDERMAL GROWTH FACTOR; FIBRILLIN 1; GENOMIC DNA; LOSARTAN;

ABSENCE OF SIDE EFFECTS; AMINO ACID SUBSTITUTION; ARTICLE; AUTOPSY; BONE RADIOGRAPHY; CARDIOMEGALY; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CLINICAL FEATURE; DEATH; DISEASE SEVERITY; DRUG DOSE TITRATION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; EXON; FEMALE; GENETIC CONSERVATION; HEART FAILURE; HEART MURMUR; HUMAN; HYDRONEPHROSIS; INFANT; LENS LUXATION; MARFAN SYNDROME; MUTATIONAL ANALYSIS; OPEN READING FRAME; OPHTHALMOLOGY; PROTEIN DOMAIN; RESPIRATORY DISTRESS; SCOLIOSIS; THORAX RADIOGRAPHY; TRANSTHORACIC ECHOCARDIOGRAPHY; TRICUSPID VALVE REGURGITATION;

FATAL OUTCOME; FEMALE; HUMANS; INFANT, NEWBORN; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION;

EID: 41849120771     PISSN: 07438346     EISSN: 14765543     Source Type: Journal    
DOI: 10.1038/sj.jp.7211915     Document Type: Article

References (11)

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