Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report
Abstract Background Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. Case presentation A G1 at 21w + 3d came to our institution for the second-trimester ultras...
Na minha lista:
| Principais autores: | , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2021-06-01
|
| Colecção: | BMC Pregnancy and Childbirth |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s12884-021-03952-w |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|