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...
Na minha lista:
| Principais autores: | , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2021-10-01
|
| coleção: | Frontiers in Pediatrics |
| Assuntos: | |
| Acesso em linha: | https://www.frontiersin.org/articles/10.3389/fped.2021.737633/full |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|