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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation.… Click to show full abstract
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. We describe a case with mutational mosaicism that would not be observed in the clinical routine when using Sanger sequencing or a NGS read coverage below app. 100.
Keywords:
hereditary hemorrhagic;
mosaicism;
mutational mosaicism;
hemorrhagic telangiectasia
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
Link to full text (if available)
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recommendations!