A carregar...
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome
Stüve-Wiedemann syndrome (SWS, OMIM 601559) is a rare autosomal recessive bent-bone dysplasia, caused by loss-of-function mutations in the leukemia inhibitory factor receptor (LIFR) gene, which usually leads to early death. Only few patients with long-term survival have been described in the literat...
Na minha lista:
| Publicado no: | Mol Syndromol |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4521069/ https://ncbi.nlm.nih.gov/pubmed/26279654 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000407418 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|