A novel COL4A1 variant associated with recurrent epistaxis and glioblastoma

COL4A1-related disorders are characterized by a higher incidence of cerebral hemorrhage than other hereditary cerebral small vessel diseases. Accumulating data have shown broad phenotypic variations, and extracerebral hemorrhages have been linked to these disorders. Moreover, the coexistence of neur...

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Bibliographische Detailangaben
Veröffentlicht in:Hum Genome Var
Hauptverfasser: Muto, Kohei, Miyamoto, Ryosuke, Terasawa, Yuka, Shimatani, Yoshimitsu, Hara, Keijiro, Kakimoto, Takumi, Fukumoto, Tatsuya, Osaki, Yusuke, Fujita, Koji, Harada, Masafumi, Uehara, Hisanori, Takagi, Yasushi, Izumi, Yuishin
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2021
Schlagworte:
Data Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8121905/
https://ncbi.nlm.nih.gov/pubmed/33990551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00150-0
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