Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling
Abstract Background Proximal symphalangism is a rare disease with multiple phenotypes including reduced proximal interphalangeal joint space, symphalangism of the 4th and/or 5th finger, as well as hearing loss. At present, at least two types of proximal symphalangism have been identified in the clin...
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BMC,
2019-11-01T00:00:00Z.
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