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咖啡斑、体重减轻、生长缓慢、下肢短缩
Bloom syndrome is BLM mutation; short stature; photosensitive facial telangiectasia; immunodeficiency; cancer predisposition; children; genetics; avoid sun; cancer surveillance.
Short stature; photosensitive facial rash; child; cancer predisposition; BLM; immunodeficiency
BLM mutation; AR; Bloom; chromosome instability.
Avoid sun; immunizations; cancer surveillance; genetics; supportive
Medical genetics / pediatrics / dermatology / oncology.
Warm reminder: Health education reference only; seek care at regular hospital.
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