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American Journal of Medicine, The, ISSN 0002-9343, 2013, Volume 126, Issue 8, pp. 670 - 678
Abstract Aortic root and ascending aortic dilatation are indicators associated with risk of aortic dissection, which varies according to underlying etiologic... 
Internal Medicine | Bentall composite graft | Ghent diagnostic criteria | Loeys-Dietz syndrome | MASS phenotype | Familial thoracic aneurysm | Bicuspid aortic valve | Aortopathy | Marfan syndrome | SLEEP-APNEA | ROOT DILATION | NATURAL-HISTORY | CHILDREN | MEDICINE, GENERAL & INTERNAL | DISSECTION | MARFAN-SYNDROME | ANEURYSMS | BICUSPID AORTIC-VALVE | FBN1 MUTATIONS | CONNECTIVE-TISSUE | Aortic Aneurysm, Thoracic - genetics | Prognosis | Skin Diseases - genetics | Aortic Aneurysm - diagnosis | Aortic Valve - abnormalities | Humans | Aortic Aneurysm - therapy | Livedo Reticularis - therapy | Contracture - genetics | Mitral Valve Prolapse - genetics | Actins - genetics | Marfan Syndrome - therapy | Arachnodactyly - diagnosis | Actins - deficiency | Skin Diseases - diagnosis | Ehlers-Danlos Syndrome - genetics | Livedo Reticularis - diagnosis | Mitral Valve Prolapse - diagnosis | Ductus Arteriosus, Patent - diagnosis | Aortic Aneurysm, Thoracic - diagnosis | Arachnodactyly - genetics | Myopia - diagnosis | Heart Valve Diseases - diagnosis | Myopia - therapy | Livedo Reticularis - genetics | Diagnosis, Differential | Ductus Arteriosus, Patent - genetics | Skin Diseases - therapy | Echocardiography | Contracture - therapy | Ehlers-Danlos Syndrome - therapy | Loeys-Dietz Syndrome - diagnosis | Mitral Valve Prolapse - therapy | Marfan Syndrome - genetics | Ductus Arteriosus, Patent - therapy | Myopia - genetics | Loeys-Dietz Syndrome - therapy | Contracture - diagnosis | Heart Valve Diseases - genetics | Iris - abnormalities | Marfan Syndrome - diagnosis | Aortic Aneurysm, Thoracic - therapy | Arachnodactyly - therapy | Heart Valve Diseases - therapy | Loeys-Dietz Syndrome - genetics | Ehlers-Danlos Syndrome - diagnosis | Aortic Aneurysm - genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1206 - 1216
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2012, Volume 158A, Issue 11, pp. 2935 - 2940
We report on a 16‐year‐old female originally diagnosed with Marden‐Walker syndrome due to features such as facial dysmorphism, several musculoskeletal... 
dermatan 4‐O‐sulfotransferase 1 deficiency | congenital contractures | kyphoscoliosis | malformation | joint laxity | adducted thumb‐clubfoot syndrome | Marden‐Walker syndrome | craniofacial characteristics | skin laxity | recurrent subcutaneous hematomas | Congenital contractures | Adducted thumb-clubfoot syndrome | Skin laxity | Joint laxity | Malformation | Recurrent subcutaneous hematomas | Dermatan 4-O-sulfotransferase 1 deficiency | Marden-Walker syndrome | Craniofacial characteristics | Kyphoscoliosis | dermatan 4-O-sulfotransferase 1 deficiency | DEFECT | FOOT SYNDROME | adducted thumb-clubfoot syndrome | VIB | DERMATAN SULFATE | GENE | BIOSYNTHESIS | GENETICS & HEREDITY | MUTATIONS | CHST14 | MANIFESTATIONS | Sulfotransferases - genetics | Diagnosis, Differential | Humans | Connective Tissue Diseases - diagnosis | Molecular Sequence Data | Genotype | Tomography, X-Ray Computed | Sulfotransferases - deficiency | Arachnodactyly - diagnosis | Ehlers-Danlos Syndrome - genetics | Phenotype | Comparative Genomic Hybridization | Contracture - diagnosis | Abnormalities, Multiple - diagnosis | Base Sequence | Adolescent | Blepharophimosis - diagnosis | Facies | Brain - pathology | Female | Ehlers-Danlos Syndrome - diagnosis | Mutation | Spine - pathology | Physiological aspects | Skin | Ehlers-Danlos syndrome | Genes | Age
Journal Article
Nature Reviews Rheumatology, ISSN 1759-4790, 06/2013, Volume 9, Issue 6, pp. 358 - 364
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2016, Volume 170, Issue 9, pp. 2310 - 2321
Journal Article
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2011, Volume 54, Issue 6, pp. e542 - e547
Abstract Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of... 
Medical Education | Genetic | Congenital | Hydrocephalus | L1CAM | Etiology | SWEDEN | INFANTILE HYDROCEPHALUS | CLASSIFICATION | CILIA | CHILDREN | ORIGIN | MUTATION | GENETICS & HEREDITY | VACTERL | MALFORMATION | EPIDEMIOLOGY | Walker-Warburg Syndrome - diagnosis | Humans | Neural Cell Adhesion Molecule L1 - genetics | Walker-Warburg Syndrome - physiopathology | Child, Preschool | Infant | Male | Walker-Warburg Syndrome - genetics | Contracture - genetics | DNA Copy Number Variations | Arachnodactyly - diagnosis | Blepharophimosis - genetics | Netherlands | Hydrocephalus - physiopathology | Karyotyping | Arachnodactyly - genetics | Blepharophimosis - diagnosis | Chromosome Disorders - diagnosis | Female | Retrospective Studies | Hydrocephalus - classification | Hydrocephalus - genetics | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Contracture - physiopathology | Connective Tissue Diseases - physiopathology | Severity of Illness Index | Arachnodactyly - physiopathology | Hydrocephalus - diagnosis | Connective Tissue Diseases - diagnosis | Gene Dosage | Abnormalities, Multiple - physiopathology | Phenotype | Contracture - diagnosis | Abnormalities, Multiple - diagnosis | Chromosome Aberrations | Connective Tissue Diseases - genetics | Polymorphism, Single Nucleotide | Blepharophimosis - physiopathology | Chromosome Disorders - genetics | Genetic research | Development and progression | Genetic disorders | Diagnosis | Developmental biology
Journal Article
Journal Article