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GENETEST REVIEW Genetics in Medicine Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type
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Document Date: 2011-01-23 08:57:17


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City

Salt Lake City / Seattle / New York / Berlin / Edinburgh / /

Company

Martens LC / GENETEST REVIEW / Stephens / 2Myriad Genetics Laboratories Inc. / Wiley-Liss Inc / Ehlers-Danlos Support Group / GE / Hess / /

Country

France / United Kingdom / Belgium / United States / /

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Event

Product Issues / FDA Phase / /

Facility

Ghent University Hospital / LABORATORY TESTING Ultrastructural / University of Washington / Ghent University / /

IndustryTerm

multiplex protocol / collagen chain / well-defined patient / cardiovascular systems / neutral site / heterogeneous / elastic fiber network / organ systems / /

MedicalCondition

Myopia / Ehlers-Danlos syndrome / Classic Ehlers-Danlos syndrome / long-term chronic pain / Chatel M. Ehlers-Danlos syndrome / periodontitis / autosomal recessive connective tissue disorder / JE / joint instability / less craniofacial abnormalities / retinal detachment / chronic articular pain / Degenerative joint disease / EhlersDanlos syndrome / collagen-related disorders / Mitral valve prolapse / X-linked bilateral periventricular nodular heterotopia / uterine rupture / joint hypermobility / proximal pulmonary artery / Muscle hypotonia / recurrent rectal prolapse / deformity / connective tissue disorder / uterine and vaginal prolapse / advanced osteoarthritis / Byers P. Disorders / et al. Human Ehlers-Danlos syndrome / disorder / Superti-Furga A. The Ehlers-Danlos syndrome / skin manifestations / X deficiency / muscle cramps / cold injuries / chronic joint dislocation / scoliosis / Bristow J. Tenascin-X deficiency / heritable connective tissue disorders / cutis laxa syndromes / neuronal migration disorders / Widened atrophic scars / foot deformities / atrophic scars / classical Ehlers-Danlos syndrome / umbilical hernia / Musculoskeletal manifestations Joint hypermobility / scars / autosomal recessive cutis laxa syndrome / Loeys-Dietz syndrome Loeys-Dietz syndrome / tricuspid valve prolapse / bifid uvula/cleft palate / aneurysms / autosomal-dominant disorder / inherited disease / Generalized joint hypermobility / Marfan syndrome / pes planus / mild classical Ehlers-Danlos syndrome / intracranial aneurysms / hypotonia and delayed motor development / Loeys-Dietz syndrome / hypotonia / lens dislocations / early cataract / deficiency / contractures / collagen vascular disorders / Familial joint hypermobility syndrome / De Barsy syndrome / clinical diagnosis Classic Ehlers-Danlos syndrome / joint pain / painless disorder / infantile cortical hyperostosis / disorders / rare autosomal-recessive disorder / Danlos syndrome type III/articular hypermobility syndrome / glaucoma / Marfan syndrome Marfan syndrome / Cutis laxa / scar / DF / et al. The RIN2 syndrome / aneurysm / headache / Chronic pain / autosomal recessive EhlersDanlos syndrome / aortic aneurysm syndrome / Lens dislocation / De Paepe A. Classical Ehlers-Danlos syndrome / intracranial hypotension / hypertelorism / alopecia / Andersson-Norinder J. Ehlers-Danlos syndrome / large atrophic scars / heritable connective tissue disorder / Fatigue / Occipital horn syndrome / gingival hypertrophy / chronic bruising / severe progressive scoliosis / arterial aneurysm / collagen chain cause Ehlers-Danlos syndrome / MACS syndrome / craniosynostosis / osteopenia / Familial joint hypermobility syndrome Familial joint hypermobility syndrome / Tourje J. Connective tissue disorders / epistaxis / incisional hernia / generalized connective tissue disorder / disease / osteogenesis imperfecta/Ehlers-Danlos syndrome / periventricular nodular heterotopia / Danlos syndrome / PYCR1 cause cutis laxa / Skin abnormalities / patent ductus arteriosus / tenascin-X deficiency / breech presentation / aortic aneurysm / repetitive hernia / joint laxity / et al. RIN2 deficiency / congenital clubfoot / osteoarthritis / Caffey disease / Primary muscular hypotonia / pain / hypermobility type Ehlers-Danlos syndrome / temporomandibular joint dysfunction / temporomandibular disorders / severe joint hypermobility / postural hypotension / Heritable Disorders / hiatal hernia / connective tissue disorders / Cutis laxa syndromes Hyperextensible skin / bilateral periventricular nodular heterotopia / chronic joint / connective tissue disease / ATP7A-related copper transport disorders / /

MedicalTreatment

incisions / Neurosurgery / counseling / psychological therapy / /

Organization

ELN / University of Washington / Seattle / Ehlers-Danlos National Foundation / Ghent University / Flemish Government / Ghent University Hospital / Centre for Medical Genetics / /

Person

Van Laer / Van den Berghe / Anne De Paepe / Fransiska Malfait / Richard J. Wenstrup / Anton-Lamprecht I. Differential / Van Maldergem / /

Position

Dobyns WB / et al / Forward / messenger / pediatrician / Steijlen PM / et al / Dean WB / /

Product

triad / glycine / Beighton scale / 3 / DDAVP / ATP7A / activity / type / /

ProvinceOrState

Washington / Utah / /

RadioStation

Pope FM / /

Technology

x-ray / Neurosurgery / genotype / gel electrophoresis / alpha / multiplex protocol / /

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