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...
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| Autori principali: | , , , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | inglese |
| Pubblicazione: |
2018
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| Accesso online: | https://doi.org/10.1002/ajmg.a.38699 |
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