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Error: Interval 50 does not exist for object RF_BELEG | FBN1 | SAP S/4HANA Quality Management
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Dr Harsh Duhan on Instagram: "⏩️ Marfan Syndrome: The Archetype of Connective Tissue Disorders ✅️ Basics Genetic disorder (Autosomal dominant) caused by FBN1 mutations (fibrillin-1). Affects connective tissue—cardiovascular, skeletal, ocular systems. High penetrance | Variable expressivity. ~25% of cases are de novo mutations. Part of heritable thoracic aortic disease spectrum. ✅️ Key Clinical Features Cardiovascular: Aortic root aneurysm (most common initial sign), Aortic dissection (Type A > T
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Dr Harsh Duhan on Instagram: "⏩️ Marfan Syndrome: The Archetype of Connective Tissue Disorders ✅️ Basics Genetic disorder (Autosomal dominant) caused by FBN1 mutations (fibrillin-1). Affects connective tissue—cardiovascular, skeletal, ocular systems. High penetrance | Variable expressivity. ~25% of cases are de novo mutations. Part of heritable thoracic aortic disease spectrum. ✅️ Key Clinical Features Cardiovascular: Aortic root aneurysm (most common initial sign), Aortic dissection (Type A > T
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Instagramdiagnose_it
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Pathology Navigator on Instagram: "👉 Follow • 💾 Save • 🔁 Share with your study buddy 🧬 MARFAN SYNDROME (Autosomal dominant) • FBN1 (fibrillin-1) mutation • Chromosome 15q21 • Weak connective tissue + ↑ TGF-β signaling ⚙️ 👤 Body build shown in the image • Tall stature, very thin build • Long limbs (dolichostenomelia) • Arachnodactyly ✋ • Pectus excavatum (sunken chest) • Scoliosis curve 👁️ Eye clue (super high-yield) • Ectopia lentis = superotemporal lens displacement 🔍 ✋ Hand sign • Posit
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Dr Ravi | Spine & Scoliosis Super Specialist on Instagram: "Scoliosis With Marfan syndrome is a genetic disorder affecting connective tissue, leading to often tall, thin builds with long limbs, flexible joints, and potential issues in the heart (especially the aorta), eyes (dislocated lens), skeleton (curved spine, flat feet), lungs, and skin, caused by a mutation in the FBN1 gene. #scoliosis #spine #marfan #india #shorts"
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Medical Exam MCQs on Instagram: "Explanation:⤵️ *Correct Answer is B (HFE) **Most hereditary hemochromatosis is due to HFE gene mutation (C282Y), causing increased intestinal iron absorption and iron deposition in organs. 🔷A. ATP7B: Wilson disease 🔷B. HFE: Hemochromatosis 🔷C. CFTR: Cystic fibrosis 🔷D. FBN1: Marfan syndrome #usmle #neetpg #fmge #medicine #medico"
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[Picture Test 21] Spot Diagnosis #MarfanOSCEs #spotdiagnosis #mrcpuk #fcps
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Videos de Sc Fbn (@sc.fbn1) con “CONDENADO AL EXITO II - Blessd”
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