The phenotypic spectrum of Xia‐Gibbs syndrome
Xia‐Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT‐Hook DNA Binding Motif Containing 1 gene ( AHDC1 ). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of...
Shranjeno v:
| Main Authors: | , , , , , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | angleščina |
| Izdano: |
2018
|
| Online dostop: | https://doi.org/10.1002/ajmg.a.38699 |
| Oznake: |
Označite
Brez oznak, prvi označite!
|