Prenatal identification of novel HSPG2 variants associated with dyssegmental dysplasia Silverman-Handmaker type
Background: We aimed to analyze mutations of the pathogenic gene in dyssegmental dysplasia Silverman-Handmaker (DDSH) type associated with the Heparin sulfate proteoglycan 2 (HSPG2) gene. Case: Prenatal testing for genetic mutations associated with fetal DDSH were performed on a pregnant woman with...
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| Main Authors: | , |
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| Format: | Book |
| Published: |
IMR Press,
2022-02-01T00:00:00Z.
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