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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , , , , , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Saesneg |
| Cyhoeddwyd: |
2018
|
| Mynediad Ar-lein: | https://doi.org/10.1002/ajmg.a.38699 |
| Tagiau: |
Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!
|