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https://www.um.edu.mt/library/oar/handle/123456789/135501| Title: | Two novel ENG variants in families with type 1 hereditary haemorrhagic telangiectasia |
| Authors: | Mintoff, Dillon Pace, Nikolai Paul Carroll, Nicola Jenkinson, Jenna Borg, Isabella |
| Keywords: | Telangiectasia -- Diagnosis Telangiectasia -- Malta -- Case studies Blood-vessels -- Diseases Medical genetics |
| Issue Date: | 2024 |
| Publisher: | JCIMCR |
| Citation: | Mintoff, D., Pace, N. P., Carroll, N., Jenkinson, J., & Borg, I. (2024). Two novel ENG variants in families with type 1 hereditary haemor-rhagic telangiectasia. Journal of Clinical Images and Medical Case Reports, 5(4), 2963. |
| Abstract: | Hereditary Haemorrhagic Telangiectasia (HHT) is a rare autosomal dominant genodermatosis characterised by cutaneous and visceral telangiectasia, recurrent epistaxis, and Arterio-Venous Malformations (AVMs). In this manuscript, we describe two novel ENG variants in Maltese-Caucasian patients presenting with a variable inter- and intrafamilial clinical phenotypes. This report highlights the importance of diagnostic suspicion of HHT in the presence of cutaneous and/or mucosal telangiectasia and/or AVMs. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/135501 |
| Appears in Collections: | Scholarly Works - FacM&SPat |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Two novel ENG variants in families with type 1 hereditary haemorrhagic telangiectasia 2024.pdf | 841.06 kB | Adobe PDF | View/Open |
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