{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T02:53:15Z","timestamp":1782355995573,"version":"3.54.5"},"reference-count":17,"publisher":"BMJ","issue":"5","license":[{"start":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:00:00Z","timestamp":1747180800000},"content-version":"unspecified","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,5,3]]},"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>An adolescent girl presents with bilateral cheek enlargement, hyperpigmentation and hypertrichosis of the lower extremities with otological, cardiac, endocrine, and hepatosplenic involvement. Clinical findings supplemented by histopathological and wide exome sequencing results led to the diagnosis of H syndrome. The genetic testing showed a homozygous frameshift mutation in the <jats:italic>SLC29A3<\/jats:italic> gene involving unique exon and codons. This case highlights the unique characteristics of H syndrome observed in a Filipino female with a variant of the <jats:italic>SLC29A3<\/jats:italic> gene mutation.<\/jats:p>","DOI":"10.1136\/bcr-2025-265035","type":"journal-article","created":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T01:50:15Z","timestamp":1747273815000},"page":"e265035","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["H syndrome presenting with bilateral cheek enlargement and an <i>SLC29A3<\/i> gene variant"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-8096-6110","authenticated-orcid":false,"given":"Krisha King","family":"Lim","sequence":"first","affiliation":[{"name":"Department of Dermatology, University of the Philippines-Philippine General Hospital, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-8690-7560","authenticated-orcid":false,"given":"Jerson Jerick Ngo","family":"Taguibao","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of the Philippines-Philippine General Hospital, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenz Alianne Kirby Cheong","family":"Plando","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology, Head and Neck Surgery, University of the Philippines-Philippine General Hospital, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmela Augusta Fugoso","family":"Dayrit-Castro","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of the Philippines-Philippine General Hospital, Manila, Philippines"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,5,14]]},"reference":[{"key":"2025082800561460000_18.5.e265035.1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.09.019"},{"key":"2025082800561460000_18.5.e265035.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.03.021"},{"key":"2025082800561460000_18.5.e265035.3","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2023.1061182","article-title":"H syndrome treated with Tocilizumab: two case reports and literature review","volume":"14","author":"Jacquot","year":"2023","journal-title":"Front Immunol"},{"key":"2025082800561460000_18.5.e265035.4","doi-asserted-by":"crossref","unstructured":"Senniappan S , Hughes M , Shah P , et al . n.d. 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