A carregar...
Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier?
We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and each of his parents were heterozygous for a mutation in WRN, which could not expl...
Na minha lista:
| Main Authors: | , , , , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2014
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4167236/ https://ncbi.nlm.nih.gov/pubmed/24989684 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36664 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|