Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: A lesson for and from true haploinsufficiency

European Journal of Human Genetics

Volumn 18, Issue 12, 2010, Pages 1315-1321

  Meienberg, Janine ^a   Rohrbach, Marianne ^b   Neuenschwander, Stefan ^a   Spanaus, Katharina ^c   Giunta, Cecilia ^b   Alonso, Sira ^a   Arnold, Eliane ^a,b   Henggeler, Caroline ^a   Regenass, Stephan ^c   Patrignani, Andrea ^a   Azzarello Burri, Silvia ^a   Steiner, Bernhard ^a   Nygren, Anders O H ^d   Carrel, Thierry ^e   Steinmann, Beat ^b   Mátyás, Gábor ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^d MRC HOLLAND   (Netherlands)

^e BERN UNIVERSITY HOSPITAL   (Switzerland)

Author keywords

aorta; cardiovascular genetics; collagen; true haploinsufficiency

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 3; COLLAGEN TYPE 5;

ADULT; AORTA DISSECTION; ARTICLE; CLINICAL FEATURE; COL3A1 GENE; COL5A2 GENE; EHLERS DANLOS SYNDROME; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENETIC ASSOCIATION; HEMIZYGOUS DELETION; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MSTN GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPERTROPHY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AORTIC DISEASES; BASE PAIRING; BASE SEQUENCE; CHROMOSOME BREAKAGE; COLLAGEN TYPE III; COLLAGEN TYPE V; DNA PROBES; FEMALE; HAPLOINSUFFICIENCY; HEMIZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MYOSTATIN; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 78549245103     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.105     Document Type: Article

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