ENG mutational mosaicism in a family with hereditary hemorrhagic telangiectasia

BACKGROUND: 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 nov...

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Detalles Bibliográficos
Autores principales: Tørring, Pernille M., Kjeldsen, Anette D., Ousager, Lilian Bomme, Brusgaard, Klaus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823686/
https://www.ncbi.nlm.nih.gov/pubmed/29243366
http://dx.doi.org/10.1002/mgg3.361

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