{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T22:01:47Z","timestamp":1771106507896,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Raine Syndrome (MIM #259775) is an autosomal recessive osteosclerotic disorder due to biallelic variants in the\n                    <jats:italic>FAM20C<\/jats:italic>\n                    gene. It is classified into two subtypes based on perinatal lethality. Here, we report an 18\u2010year\u2010old male who presented with dental problems in childhood and subjective gait instability, followed by an incidental finding of hypophosphataemia and multiple\u2010level spinal stenosis. Examination showed characteristic features including a high forehead, midface hypoplasia, prognathism, amelogenesis imperfecta, brachydactyly and bulbous finger tips, and further biochemical workup revealed a low 1,25\u2010dihydroxyvitamin D level and an elevated FGF23 level. Exome sequencing identified compound heterozygous NM_020223.4 c.1487C\u2009&gt;\u2009T, p.(Pro496Leu), and c.1375C\u2009&gt;\u2009T, p.(Arg459Cys) likely pathogenic variants in the\n                    <jats:italic>FAM20C<\/jats:italic>\n                    gene, with the latter being a novel variant. This case report therefore expands the genetic and phenotypic spectrum of non\u2010lethal Raine Syndrome, and underscores the importance of genetic evaluation in hypophosphatemic patients with dysmorphic features.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64292","type":"journal-article","created":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T07:19:21Z","timestamp":1761981561000},"page":"749-754","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["An Uncommon Case of Hypophosphataemia\u2014Non\u2010Lethal Raine Syndrome With Novel\n                    <scp>FAM20C<\/scp>\n                    Variant: Expanding the Phenotypic Spectrum"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-0294-5003","authenticated-orcid":false,"given":"Candice Wai\u2010Man","family":"Au","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9923-7424","authenticated-orcid":false,"given":"Shirley Sze\u2010Wing","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy Hua\u2010Tse","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Pathology Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pui Kwan Joyce","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Radiology Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5313-4225","authenticated-orcid":false,"given":"Lai\u2010In","family":"Ho","sequence":"additional","affiliation":[{"name":"Department of Dentistry &amp; Maxillofacial Surgery Hong Kong Childrens's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-0805-2945","authenticated-orcid":false,"given":"Jenny Yeuk\u2010Ki","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Pathology Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walter Wai","family":"Yeung","sequence":"additional","affiliation":[{"name":"Department of Pathology Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1381-8683","authenticated-orcid":false,"given":"Min","family":"Ou","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent Cheuk\u2010Tung","family":"Tse","sequence":"additional","affiliation":[{"name":"Department of Paediatrics &amp; Adolescent Medicine Kwong Wah Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hugo Chi\u2010Chung","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics &amp; Adolescent Medicine Kwong Wah Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4066-4066","authenticated-orcid":false,"given":"Ho\u2010Ming","family":"Luk","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,1]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010015\u20100154\u20105"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1517\/14728222.2016.1091883"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.09.018"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000513384"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12031\u2010021\u201001873\u2010z"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2010.01516.x"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1155\/2021\/6637180"},{"key":"e_1_2_11_9_1","unstructured":"Karaguzel G. 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