Carregant...
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,...
Guardat en:
| Publicat a: | Cold Spring Harb Mol Case Stud |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Cold Spring Harbor Laboratory Press
2020
|
| Matèries: | |
| Accés en línia: | 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 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|