{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:56:23Z","timestamp":1787014583789,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T00:00:00Z","timestamp":1137024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:p>\n                    Hereditary haemorrhagic telangiectasia (HHT) is an autosomal\u2010dominant disease characterized by recurrent epistaxis, mucocutaneous telangiectasias and visceral arteriovenous malformations. Mutations in endoglin (\n                    <jats:italic>ENG<\/jats:italic>\n                    ) and activin A receptor type II\u2010like kinase 1 (\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    or\n                    <jats:italic>ALK1<\/jats:italic>\n                    ) have been found in patients with HHT. We have screened a total of 51 unselected German index cases with the suspected diagnosis of HHT. We identified 30 different mutations in 32 cases (62.7%) by direct sequencing. Among these mutations, 11 of 13\n                    <jats:italic>ENG<\/jats:italic>\n                    mutations and 12 of 17\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    mutations were not previously reported in the literature. Two of the\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    mutations were each shared by two families. An analysis of the genotype\u2013phenotype correlation is consistent with a more common frequency of pulmonary arteriovenous malformations in patients with\n                    <jats:italic>ENG<\/jats:italic>\n                    mutations than in patients with\n                    <jats:italic>ACVRL1<\/jats:italic>\n                    mutations in our collective.\n                  <\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00574.x","type":"journal-article","created":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T11:54:26Z","timestamp":1137066866000},"page":"239-245","source":"Crossref","is-referenced-by-count":28,"title":["Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel\n                    <i>ENG<\/i>\n                    and 12 novel\n                    <i>ACVRL1\/ALK1<\/i>\n                    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