Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa
- Author
- DASOUKI, Majed1 ; MARKOVA, Dessislava2 ; GAROLA, Robert3 ; SASAKI, Takako4 ; CHARBONNEAU, Noe L5 ; SAKAI, Lynn Y5 ; CHU, Mon-Li2
[1] Division of Genetics, Endocrinology & Metabolism, Departments of Pediatrics and Internal medicine, The University of Kansas Medical Center, Kansas City, Kansas, United States
[2] Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, United States
[3] Department of Pathology, Alfred I. duPont Hospital for Children, Wilmington, Delaware, United States
[4] Max-Planck -Institute for Biochemistry, Martinsried, Germany
[5] Shriners Hospital for Children, Department of Biochemistry and Molecular Biology, Oregon Health & Science University, Portland, Oregon, United States - Source
American journal of medical genetics. Part A. 2007, Vol 143, Num 22, pp 2635-2641, 7 p ; ref : 3/4 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- aortic aneurysm cutis laxa fibulin-4 tortuous vessels
- Keyword (fr)
- Anévrysme aortique Anévrysme artère pulmonaire Aorte Arachnodactylie Cutis laxa Mutation Nouveau né Néonatal Occlusion Vaisseau sanguin Appareil circulatoire pathologie Appareil respiratoire pathologie Artère pathologie Homme Maladie système Peau pathologie Système ostéoarticulaire pathologie Tissu élastique pathologie Vaisseau sanguin pathologie
- Keyword (en)
- Aortic aneurysm Pulmonary artery aneurysm Aorta Arachnodactyly Cutis laxa Mutation Newborn Neonatal Occlusion Blood vessel Cardiovascular disease Respiratory disease Arterial disease Human Systemic disease Skin disease Diseases of the osteoarticular system Elastic tissue disease Vascular disease
- Keyword (es)
- Aneurisma de aorta Aneurisma arteria pulmonar Aorta Aracnodactilia Calastodermia Mutación Recién nacido Neonatal Oclusión Vaso sanguíneo Aparato circulatorio patología Aparato respiratorio patología Arteria patología Hombre Enfermedad sistémica Piel patología Sistema osteoarticular patología Tejido elástico patología Vaso sanguíneo patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B07 Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B12 Cardiology. Vascular system / 002B12B Blood and lymphatic vessels / 002B12B03 Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous
- Discipline
- Cardiology. Circulatory system Medical genetics Sarcoidosis. Granulomatosis of undetermined origin. Connective tissue diseases. Vasculitides
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19211234
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ajmg.a.31980 
https://dx.doi.org/10.1002/ajmg.a.31980
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