Case report: A de novo Non-sense SOX9 mutation (p.Q417*) located in transactivation domain is Responsible for Campomelic Dysplasia
BackgroundCampomelic dysplasia (CD) is an autosomal dominant skeletal dysplasia syndrome characterized by shortness and bowing of lower extremities, and often accompanied by XY sex reversal. Heterozygous pathogenic variants of SOX9 or rearrangement involving the long arm of chromosome 17 are the cau...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2023-01-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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