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Rothmund‐Thomson Syndrome in Two Siblings

机译:Rothmund‐Thomson Syndrome in Two Siblings

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Abstract:Rothmund‐Thomson syndrome, a rare autosomal recessive disorder, is characterized by photosensitivity; specific skin changes including polkiloderma, atrophy, and telanglectsses; juvenile cataracts; short stature; and bone defects. We describe two siblings with this syndrom

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