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The tale of two genes: from next-generation sequencing to phenotype
An 18-yr-old man with a history of intellectual disability, craniofacial dysmorphism, seizure disorder, and obesity was identified to carry a de novo, pathogenic variant in ASXL1 (c.4198G>T; p.E1400X) associated with the diagnosis of Bohring–Opitz syndrome based on exome sequencing. In addition,...
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| Veröffentlicht in: | Cold Spring Harb Mol Case Stud |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Cold Spring Harbor Laboratory Press
2020
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7133747/ https://ncbi.nlm.nih.gov/pubmed/31969346 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004846 |
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