{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T22:28:50Z","timestamp":1784413730969,"version":"3.55.0"},"reference-count":7,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,1,9]],"date-time":"2022-01-09T00:00:00Z","timestamp":1641686400000},"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":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Str\u00f8mme syndrome (MIM #243605) is a rare autosomal recessive ciliopathy resulting from compound heterozygous or homozygous pathogenic alterations in the <jats:italic>CENPF<\/jats:italic> gene (# 600236). Although there are a number of case reports featuring individuals with clinically compatible Str\u00f8mme syndrome, only 13 affected individuals had molecular confirmation worldwide. Herein, we report a 24\u2009years old Chinese gentleman with molecularly confirmed Str\u00f8mme syndrome with compound heterozygous pathogenic nonsense variants in NM_016343.3(CENPF):c.436C\u2009&gt;\u2009T, p.(Gln146*) and c.9280C\u2009&gt;\u2009T, p.(Arg3094*). He presented with microcephaly, unilateral microphthalmia, single central upper incisor and bilateral preaxial polydactyly. To our knowledge, this is the first reported Chinese individual with molecularly confirmed Str\u00f8mme syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62646","type":"journal-article","created":{"date-parts":[[2022,1,10]],"date-time":"2022-01-10T07:28:05Z","timestamp":1641799685000},"page":"1626-1629","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["The first case report of Str\u00f8mme syndrome in a Chinese patient: Expanding the phenotype and literature review"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4239-5752","authenticated-orcid":false,"given":"Stephanie","family":"Ho","sequence":"first","affiliation":[{"name":"Clinical Genetic Service, Department of Health HKSAR  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4066-4066","authenticated-orcid":false,"given":"Ho\u2010Ming","family":"Luk","sequence":"additional","affiliation":[{"name":"Clinical Genetic Service, Department of Health HKSAR  Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan F. 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