Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome

Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in AHDC1. In this study, we identified a Brazilian patient carrying a likely de novo...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Syndromol
Hauptverfasser: Cardoso-dos-Santos, Augusto C., Oliveira Silva, Thiago, Silveira Faccini, Anderson, Woycinck Kowalski, Thayne, Bertoli-Avella, Aida, Morales Saute, Jonas A., Schuler-Faccini, Lavinia, de Oliveira Poswar, Fabiano
Format: Artigo
Sprache:Inglês
Veröffentlicht: S. Karger AG 2020
Schlagworte:
Novel Insights from Clinical Practice
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109424/
https://ncbi.nlm.nih.gov/pubmed/32256298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505843
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