A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia
Abstract Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital malformations. This case was diagnosed as...
Na minha lista:
| Principais autores: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2021-10-01
|
| coleção: | Human Genome Variation |
| Acesso em linha: | https://doi.org/10.1038/s41439-021-00166-6 |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|