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Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome
Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cysts, delayed myelination, micrognathia, and mild dysmorphic features. Using whole-exome sequencing, we identifie...
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| 發表在: | Mol Syndromol |
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| Main Authors: | , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
S. Karger AG
2017
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5701272/ https://ncbi.nlm.nih.gov/pubmed/29230160 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000479357 |
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