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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
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