词条 | Human disorders attributable to a single dominant gene |
释义 | Human disorders attributable to a single dominant gene Table Human disorders attributable to a single dominant gene trait conspicuous signs achondroplasia dwarfism, large head, short extremities, short fingers and toes osteogenesis imperfecta bone fragility, deafness Huntington disease involuntary movement, emotional disturbance, dementia Marfan syndrome long, thin extremities and fingers; eye and cardiovascular problems neurofibromatosis pigmented spots (café au lait) on skin, skin tumours, occasional brain or other internal tumours See as table: ![]() |
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