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...
Gardado en:
| Principais autores: | , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
IMR Press
2022-02-01
|
| Series: | Clinical and Experimental Obstetrics & Gynecology |
| Assuntos: | |
| Acceso en liña: | https://www.imrpress.com/journal/CEOG/49/2/10.31083/j.ceog4902037 |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|