Cargando...
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome
Cockayne syndrome is an autosomal recessive disorder principally characterized by postnatal growth failure and progressive neurological dysfunction, due primarily to mutations in ERCC6 and ERCC8. Here, we report our diagnostic experience for two patients in a Chinese family suspected on clinical gro...
Gardado en:
| Publicado en: | Sci Rep |
|---|---|
| Main Authors: | , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Nature Publishing Group
2017
|
| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5363064/ https://ncbi.nlm.nih.gov/pubmed/28333167 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep44271 |
| Tags: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|