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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| Autors principals: | , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
IMR Press
2022-02-01
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| Col·lecció: | Clinical and Experimental Obstetrics & Gynecology |
| Matèries: | |
| Accés en línia: | https://www.imrpress.com/journal/CEOG/49/2/10.31083/j.ceog4902037 |
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