A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia
Odontochondrodysplasia (ODCD, OMIM #184260) is a rare, non-lethal skeletal dysplasia characterized by involvement of the spine and metaphyseal regions of the long bones, pulmonary hypoplasia, short stature, joint hypermobility, and dentinogenesis imperfecta. ODCD is inherited in an autosomal recessi...
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| Main Authors: | , , , |
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| Format: | Book |
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Galenos Yayincilik,
2022-12-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |