A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm

European Journal of Human Genetics

Volumn 22, Issue 7, 2014, Pages 944-948

  Leutermann, Ruth ^a   Sheikhzadeh, Sara ^b   Brockstädt, Lars ^b   Rybczynski, Meike ^b   Van Rahden, Vanessa ^a   Kutsche, Kerstin ^a   Von Kodolitsch, Yskert ^b   Rosenberger, Georg ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^b UNIVERSITY HEART CENTER HAMBURG   (Germany)

Author keywords

Loeys Dietz syndrome; Marfan syndrome; TGF ; TGFB2; TGFB2 mutation; Thoracic aortic aneurysms and dissections

Indexed keywords

LYSINE; SERINE; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA RECEPTOR; TGFB2 PROTEIN, HUMAN; TRANSFORMING GROWTH FACTOR BETA2;

ADULT; ARTICLE; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; EXON; FAMILIAL DISEASE; FBN1 GENE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE SEQUENCE; GENETIC PREDISPOSITION; HAPLOINSUFFICIENCY; HETEROZYGOTE; HUMAN; LOEYS DIETZ SYNDROME; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MALE; MARFAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SMAD3 GENE; STOP CODON; TGFB2 GENE; TGFBR1 GENE; TGFBR2 GENE; THORACIC AORTA ANEURYSM; ADOLESCENT; CLINICAL TRIAL; FAMILY; FEMALE; GENETICS; MIDDLE AGED; PATHOLOGY; PEDIGREE;

ADOLESCENT; ADULT; AORTIC ANEURYSM, THORACIC; FAMILY; FEMALE; HAPLOINSUFFICIENCY; HUMANS; MALE; MARFAN SYNDROME; MIDDLE AGED; PEDIGREE; TRANSFORMING GROWTH FACTOR BETA2;

EID: 84902330892     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.252     Document Type: Article

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