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Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in end...
Gorde:
| Argitaratua izan da: | BMC Neurol |
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| Egile Nagusiak: | , , , , , , , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
BioMed Central
2020
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| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7450577/ https://ncbi.nlm.nih.gov/pubmed/32847536 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-020-01890-2 |
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