{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,12]],"date-time":"2026-01-12T06:56:43Z","timestamp":1768201003688,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T00:00:00Z","timestamp":1665187200000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>ERI1<\/jats:italic> is an evolutionary conserved 3\u2032\u20135\u2032 exonuclease with an important function in multiple RNA processing pathways. Although the molecular mechanisms in which ERI1 is involved have been studied extensively in model organisms, the pathology associated with <jats:italic>ERI1<\/jats:italic> variants in humans has remained elusive because no case has been reported so far. Here, we present a case of a female patient with a homozygous nonsense variant in <jats:italic>ERI1<\/jats:italic> gene. The patient exhibits mild intellectual disability, eyelid ptosis, and anomalies in her hands and feet (brachydactyly, clinodactyly, dysplastic\/short nail of halluces, brachytelephalangy, short metacarpals, and toe syndactyly). This case report is the first of its kind and is invaluable for understanding ERI1 pathology in humans.<\/jats:p>","DOI":"10.1002\/ajmg.a.62987","type":"journal-article","created":{"date-parts":[[2022,10,8]],"date-time":"2022-10-08T08:30:46Z","timestamp":1665217846000},"page":"64-69","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<scp><i>ERI1<\/i><\/scp>: A case report of an autosomal recessive syndrome associated with developmental delay and distal limb abnormalities"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7515-4288","authenticated-orcid":false,"given":"Valbona","family":"Hoxha","sequence":"first","affiliation":[{"name":"Department of Biology Lebanon Valley College  Annville Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2128-6701","authenticated-orcid":false,"given":"Ermal","family":"Aliu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics Penn State Health Milton S. 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