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Department of Dermatology, Columbia University | 論文

• Ambras syndrome in a Korean patient with balanced pericentric inversion (8)(p11.2q24.2)
• Striate palmoplantar keratoderma resulting from a frameshift mutation in the desmoglein 1 gene
• A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient

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