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Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family

✍ Scribed by W Wooderchak; F Gedge; M McDonald; P Krautscheid; X Wang; J Malkiewicz; CJ Bukjiok; T Lewis; P Bayrak-Toydemir


Book ID
110889026
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
687 KB
Volume
78
Category
Article
ISSN
0009-9163

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ATM mutations in Italian families with a
✍ Simona Cavalieri; Ada Funaro; Paola Porcedda; Valentina Turinetto; Nicola Migone πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 271 KB

In patients affected by Ataxia-Telangiectasia (A-T), mutations in the ATM gene lead to lossof-function alleles. Nonsense, splice-site variants, small insertions or deletions (frameshifts) and missense are the most commonly found mutations. Large genomic deletions (LGDs) are rare (~1%) but can lead t

Hepatic manifestation is associated with
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Hereditary hemorrhagic telangiectasia (HHT), or Osler-Rendu-Weber syndrome, is a heterogeneous inherited disorder characterized by multi-systemic vascular dysplasia and wide variation in its phenotypic expression. Hepatic manifestation is seen in about 8 to 30 % of the patients. The molecular basis