ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

ConclusionWe provide evidence of ENG mutational mosaicism in an individual presenting with clinical HHT. These findings illustrate the importance of considering mutational mosaicism. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. However, we provide evidence of ENG mutational mosaicism in an individual presenting with clinical HHT.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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Source: American Journal of Rhinology and Allergy - Category: ENT & OMF Authors: Tags: Am J Rhinol Allergy Source Type: research
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Conditions:   Hereditary Hemorrhagic Telangiectasia;   HHT;   Brain Arteriovenous Malformation (BAVM) Intervention:   Other: Registry and Saliva sample Sponsors:   St. Michael's Hospital, Toronto;   HHT Foundation International;   Dartmouth College Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
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Source: Cardiovascular and Hematological Agents in Medicinal Chemistry - Category: Cardiology Tags: Cardiovasc Hematol Agents Med Chem Source Type: research
Condition:   Hereditary Hemorrhagic Telangiectasia Interventions:   Drug: Timolol Gel;   Drug: Placebo Gel Sponsors:   Washington University School of Medicine;   Institute of Clinical and Translational Sciences (ICTS) Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
More News: Genetics | Hereditary Hemorrhagic Telangiectasia