{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T17:42:12Z","timestamp":1791999732473,"version":"4.4.0"},"reference-count":21,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2022,5,14]],"date-time":"2022-05-14T00:00:00Z","timestamp":1652486400000},"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":[[2022,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Alazami syndrome (AS) is an autosomal recessive condition characterized by the cardinal features of severe growth restriction, moderate to severe intellectual disability, and distinctive facial features. Biallelic pathogenic variants of the <jats:italic>LARP7<\/jats:italic>, encoding a chaperone of 7SK noncoding RNA, is implicated in this disease. There are &lt;35 reported cases in the literature. All reported cases share the same three cardinal features of the syndrome. Herein, we report on 12 patients with a confirmed diagnosis of AS from eight unrelated families. The cohort shares the same key feature of the syndrome. Moreover, we report additional phenotypic features, including genito\u2010renal anomalies, ophthalmological abnormalities, and congenital heart disease. Whole\u2010exome sequencing was used in all reported cases, implicating a clinical under\u2010recognition of the syndrome. This report further expands the clinical and molecular characteristics of Alazami syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62778","type":"journal-article","created":{"date-parts":[[2022,5,14]],"date-time":"2022-05-14T14:19:14Z","timestamp":1652537954000},"page":"2485-2490","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Further phenotypic delineation of Alazami syndrome"],"prefix":"10.1002","volume":"188","author":[{"given":"Abdulhamid","family":"Al\u2010Hinai","sequence":"first","affiliation":[{"name":"Department of Genetics College of Medicine and Health Sciences, Sultan Qaboos University  Muscat Oman"},{"name":"Genetic and Developmental Medicine Clinic Sultan Qaboos University Hospital  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samiya","family":"Al\u2010Hashmi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Royal Hospital, Ministry of Health  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anuradha","family":"Ganesh","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Pediatric Ophthalmology and Ocular Genetics Unit Sultan Qaboos University Hospital  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Al\u2010Hashmi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Royal Hospital, Ministry of Health  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abeer","family":"Al\u2010Saegh","sequence":"additional","affiliation":[{"name":"Department of Genetics College of Medicine and Health Sciences, Sultan Qaboos University  Muscat Oman"},{"name":"Genetic and Developmental Medicine Clinic Sultan Qaboos University Hospital  Muscat Oman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Watfa","family":"Al\u2010Mamari","sequence":"additional","affiliation":[{"name":"Department 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