Neonatal Marfan syndrome: Clinical report and review of the literature

Clinical Dysmorphology

Volumn 14, Issue 2, 2005, Pages 81-84

  Ter Heide, Henriette ^a   Schrander Stumpel, Constance T R M ^a,b   Pals, Gerard ^c   Delhaas, Tammo ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

De novo FBN1 mutation; Follow up; Neonatal Marfan syndrome

Indexed keywords

CASE REPORT; CHROMOSOME 15Q; CLINICAL FEATURE; DISEASE ASSOCIATION; DNA ISOLATION; EXON; FBN1 GENE; FRAMESHIFT MUTATION; GENE; GENETIC ANALYSIS; HEART DISEASE; HUMAN; MALE; MARFAN SYNDROME; NEWBORN DISEASE; PATHOGENESIS; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; REVIEW;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; NETHERLANDS; POINT MUTATION;

EID: 16444380584     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200504000-00005     Document Type: Review

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