Neonatal Marfan syndrome caused by an exon 25 mutation of the Fibrillin-1 gene

Genetic Counseling

Volumn 15, Issue 2, 2004, Pages 219-225

  Elçioglu, Nursel H ^a   Akalin, F ^a   Elcioglu M ^b   Comeglio, P ^c   Child, A H ^c  

^a MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b ABANT IZZET BAYSAL UNIVERSITY   (Turkey)

^c ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Arachnodactyly; Ectopia lentis; FBN1 gene; Neonatal Marfan syndrome

Indexed keywords

AORTA DISEASE; ARACHNODACTYLY; ARTICLE; CASE REPORT; DIAGNOSTIC PROCEDURE; EAR MALFORMATION; EXON; FIBRILLIN 1 GENE; FLEXION CONTRACTURE; GENE; GENE MUTATION; HEART FAILURE; HUMAN; HUMAN TISSUE; INFANT; LENS LUXATION; MALE; MARFAN SYNDROME; RETROGNATHIA; VALVULAR HEART DISEASE;

ABNORMALITIES, MULTIPLE; ECTOPIA LENTIS; FATAL OUTCOME; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION, MISSENSE;

EID: 3142588893     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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