Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family
Abstract Background Proximal symphalangism (SYM1; OMIM 185800), also called Cushing's symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal joints in the hands and feet. Methods We recruited a four-generation C...
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Main Authors: | , , , , , |
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Format: | Book |
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BMC,
2019-08-01T00:00:00Z.
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Call Number: |
A1234.567 |
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Copy 1 | Available |