Rothmund-Thomson syndrome: A review of clinical and molecular aspects
Introduction: Rothmund-Thomson syndrome (RTS) is a rare genodermatosis which manifests a wide array of symptoms affecting skin and skin appendages. The first two cases were reported in 1957. Purpose: To present a comprehensive clinical and molecular perspective of RTS. Methods: A clinical review of...
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| Format: | Book |
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Wolters Kluwer Medknow Publications,
2020-01-01T00:00:00Z.
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| Summary: | Introduction: Rothmund-Thomson syndrome (RTS) is a rare genodermatosis which manifests a wide array of symptoms affecting skin and skin appendages. The first two cases were reported in 1957. Purpose: To present a comprehensive clinical and molecular perspective of RTS. Methods: A clinical review of the reported cases. Results: A variety of nonspecific symptoms make it difficult to reach an early diagnosis and to provide an appropriate counseling. Conclusion: This review highlight the major clinical variations to help reach a prompt diagnosis and take appropriate preventative measures. |
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| Item Description: | 2352-2410 2352-2429 10.4103/jdds.jdds_34_19 |