H syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin

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dc.contributor.authorAn, I
dc.contributor.authorDurmaz, C. D.
dc.contributor.authorRuhi, H., I
dc.contributor.authorErtop, P.
dc.contributor.authorOzturk, M.
dc.contributor.authorSula, B.
dc.contributor.authorEcer, N.
dc.date.accessioned2024-04-24T17:37:29Z
dc.date.available2024-04-24T17:37:29Z
dc.date.issued2019
dc.departmentDicle Üniversitesien_US
dc.description.abstractH syndrome is an autosomal recessive genodermatosis caused by SLC29A3 gene mutation. An important feature of the H syndrome is the hyperpigmented patchs and plaques, usually accompanied by hypertrichosis, seen in the inner thigh. Cardiac anomalies, hepatosplenomegaly, sensorineural hearing loss, short stature, hallux valgus and hypergonadotropic hypogonadism are other common findings of the syndrome. Herein, we report a case of H syndrome with hyperpigmented patches and plaques accompanied by hypertrichosis in inner thighs and had homozygous c.1339G > A (p.Glu447Lys) mutation in exon 6 of the SLC29A3 gene.en_US
dc.identifier.endpage140en_US
dc.identifier.issn1814-7453
dc.identifier.issue3en_US
dc.identifier.scopus2-s2.0-85087777038
dc.identifier.scopusqualityQ4
dc.identifier.startpage137en_US
dc.identifier.urihttps://hdl.handle.net/11468/20949
dc.identifier.volume27en_US
dc.identifier.wosWOS:000492378900006
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.language.isoenen_US
dc.publisherMedcom Ltden_US
dc.relation.ispartofHong Kong Journal of Dermatology & Venereology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectH Syndromeen_US
dc.subjectHomozygous Mutationen_US
dc.subjectSlc29a3en_US
dc.titleH syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skinen_US
dc.titleH syndrome: a genodermatosis characterised by hyperpigmented, and hypertrichotic skin
dc.typeArticleen_US

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