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...
-д хадгалсан:
| Үндсэн зохиолчид: | , , , , , , , , , , , , , |
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| Формат: | Artigo |
| Хэл сонгох: | англи |
| Хэвлэсэн: |
2018
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| Онлайн хандалт: | https://doi.org/10.1002/ajmg.a.38699 |
| Шошгууд: |
Шошго нэмэх
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
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