{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T18:10:11Z","timestamp":1696702211416},"reference-count":4,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2013,7,3]],"date-time":"2013-07-03T00:00:00Z","timestamp":1372809600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>The association of Coats disease with intrauterine growth retardation, intracranial calcification, leukodystrophy, brain cysts, osteopenia, and gastrointestinal bleeding defines Coats plus syndrome caused by mutations in the CTC1 gene, encoding conserved telomere maintenance component 1. Here, we report on a child with exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly, and short stature, in whom no mutations in CTC1 were found. Our patient shares some features seen in other diseases associated with telomere shortening including Hoyeraal\u2013Hreidarsson and Revesz syndromes. We therefore measured telomere length by Flow\u2010Fish which was normal. The association of duodenal atresia and microcephaly also suggested a diagnosis of Feingold syndrome. However, direct sequencing of MYCN was normal, and we did not detect any hemizygous deletion of the miR\u201017\u223c92 polycistronic miRNA cluster. To our knowledge, the phenotype we report on has not been described previously, leading us to speculate that this condition may represent a new syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36021","type":"journal-article","created":{"date-parts":[[2013,7,3]],"date-time":"2013-07-03T22:59:03Z","timestamp":1372892343000},"page":"1829-1832","source":"Crossref","is-referenced-by-count":2,"title":["Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?"],"prefix":"10.1002","volume":"161","author":[{"given":"Bertrand","family":"Isidor","sequence":"first","affiliation":[{"name":"CHU Nantes Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"},{"name":"INSERM UMR\u2010S 957, 1 Rue Gaston Veil Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guyl\u00e8ne","family":"Le Meur","sequence":"additional","affiliation":[{"name":"CHU Nantes Service d'Ophtalmologie Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carole","family":"Conti","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de P\u00e9diatrie Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Caldagues","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de P\u00e9diatrie Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elodie","family":"Lainey","sequence":"additional","affiliation":[{"name":"INSERM U848 Villejuif France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elise","family":"Launay","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de P\u00e9diatrie Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc David","family":"Leclair","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de Chirurgie P\u00e9diatrique Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Le Francois","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de Radiologie P\u00e9diatrique Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olivier","family":"Pichon","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Boisseau","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Migraine","sequence":"additional","affiliation":[{"name":"CHU Nantes Service de N\u00e9onatologie Nantes 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