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 a...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Jiang, Yunyun, Wangler, Michael F., McGuire, Amy L., Lupski, James R., Posey, Jennifer E., Khayat, Michael M., Murdock, David R., Sanchez-Pulido, Luis, Ponting, Chris P., Xia, Fan, Hunter, Jill V., Meng, Qingchang, Murugan, Mullai, Gibbs, Richard A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6231716/
https://ncbi.nlm.nih.gov/pubmed/29696776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38699
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