Cargando…
Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome
BACKGROUND: Cockayne syndrome (CS, OMIM #133540, #216400) is a rare autosomal recessive disease involving multiple systems, typically characterized by microcephaly, premature aging, growth retardation, neurosensory abnormalities, and photosensitivity. The age of onset is related to the severity of t...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10655510/ https://www.ncbi.nlm.nih.gov/pubmed/37592445 http://dx.doi.org/10.1002/mgg3.2254 |