{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T19:14:49Z","timestamp":1762542889033,"version":"3.37.3"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,7,24]],"date-time":"2018-07-24T00:00:00Z","timestamp":1532390400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cockayne syndrome (CS) is one the rare DNA\u2010repair deficiency disorders with autosomal recessive inheritance. Failure to thrive and microcephaly are the major criteria of diagnosis. Owing to genetic heterogeneity of CS, whole exome sequencing is promising way to determine the genetic basis of the disease. Here, we present c.1053delT in <jats:italic>ERCC8<\/jats:italic> gene in an Iranian family with symptom of CS using whole exome sequencing. The deletion was novel and was not previously reported elsewhere.<\/jats:p>","DOI":"10.1111\/ahg.12255","type":"journal-article","created":{"date-parts":[[2018,7,24]],"date-time":"2018-07-24T11:39:36Z","timestamp":1532432376000},"page":"304-308","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Exome sequencing revealed a novel deletion in the <i>ERCC8<\/i> gene in an Iranian family with Cockayne syndrome"],"prefix":"10.1111","volume":"82","author":[{"given":"J.","family":"Mohammadi\u2010asl","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, School of Medicine Ahvaz Jundishapur University of Medical Sciences  Ahvaz Iran"},{"name":"Noor Genetics Lab  Ahvaz Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3838-0259","authenticated-orcid":false,"given":"M.","family":"Hajjari","sequence":"additional","affiliation":[{"name":"Department of 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