Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge
Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant malformation caused by mutations involving the TRPS1 gene. Patients with TRPS exhibit distinctive craniofacial and skeletal abnormalities. This report presents three intra-familial cases with TRPS1 gene mutations that showed the ch...
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| Main Authors: | , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2022-11-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |