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Article

JP-HHT phenotype in Danish patients with SMAD4 mutations.

Clinical genetics - 1 Jul 2016

Jelsig A M, Tørring P M, Kjeldsen A D, Qvist N, Bojesen A, Jensen U B, Andersen M K, Gerdes A M, Brusgaard K, Ousager L B

Abstract excerpt

Patients with germline mutations in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT): the JP-HHT syndrome. The complete phenotypic picture of this syndrome is only just emerging. We describe the clinical characteristics of 14 patients with SMAD4-mutations. The study was a retrospective, register-based study. SMAD4 mutations carriers were...

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Identifiers

PMID: 26572829
DOI: 10.1111/cge.12693

Genes

SMAD4

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