Prenatal Diagnosis of Holt-Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report
Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene.Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to...
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| Main Authors: | , , , , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2021-10-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |