Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort.

Conclusion: Novel and published variants in ENG (37.5%) and ACVRL1 (62.5%) were exclusively identified as the cause of HHT in an Austrian patient cohort. Identification of novel causative genetics variants should facilitate the development of tailored therapeutical applications in the future treatment of autosomal dominant HHT. PMID: 31220907 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31220907?dopt=Abstract

Source: Clinical and Experimental Otorhinolaryngology - June 23, 2019 Category: ENT & OMF Tags: Clin Exp Otorhinolaryngol Source Type: research

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