A carregar...
Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report
BACKGROUND: Blended phenotypes or co-occurrence of independent phenotypically distinct conditions are extremely rare and are due to coincidence of multiple pathogenic mutations, especially due to consanguinity. Hereditary fibrinogen deficiencies result from mutations in the genes FGA, FGB, and FGG,...
Na minha lista:
| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5956920/ https://ncbi.nlm.nih.gov/pubmed/29769041 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0597-6 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|