{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:45:27Z","timestamp":1777329927118,"version":"3.51.4"},"reference-count":21,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T00:00:00Z","timestamp":1669852800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Diastrophic dysplasia (DTD) is an uncommon pathology which falls under the group of skeletal dysplasias with its first symptoms observed from birth. The pathology is often featured by short stature and abnormally short extremities (also known as short-limbed dwarfism); the osseous structures of the body (bones and joints) are characterized through defective development in many body regions. More than 300 genes were reported to be involved in DTD etiology with autosomal recessive, autosomal dominant and X-linked manner.<\/jats:p>\n                  <jats:p>\n                    We describe clinical case of a 42-year-old woman from the west of Ukraine with diastrophic dysplasia and two pathogenic variants\n                    <jats:italic>c.1020_1022del (p.Val341del)<\/jats:italic>\n                    and\n                    <jats:italic>c.1957T&gt;A (p.Cys653Ser)<\/jats:italic>\n                    identified in\n                    <jats:italic>SLC26A2<\/jats:italic>\n                    gene.\n                  <\/jats:p>\n                  <jats:p>\n                    SLC26A2-related diastrophic dysplasia\n                    <jats:bold\/>\n                    was confirmed\n                    <jats:bold\/>\n                    based on the presence of pathogenic variants in\n                    <jats:italic>SLC26A2<\/jats:italic>\n                    , which is associated with autosomal recessive forms of skeletal dysplasia, combined with phenotypic symptoms and radiographic findings.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2022-0018","type":"journal-article","created":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T09:25:04Z","timestamp":1683019504000},"page":"83-90","source":"Crossref","is-referenced-by-count":2,"title":["<i>SLC26A2<\/i>\n                    Related Diastrophic Dysplasia in 42-Years Ukrainian Women"],"prefix":"10.2478","volume":"25","author":[{"given":"M.","family":"Bondarenko","sequence":"first","affiliation":[{"name":"Ivano-Frankivsk National Medical University , Ivano-Frankivsk , Ukraine ."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Haiboniuk","sequence":"additional","affiliation":[{"name":"Institute of Hereditary Pathology of the Ukrainian National Academy of Medical Sciences , Lviv , Ukraine ."},{"name":"Scientific Medical Genetic Center LeoGENE, LTD , Lviv , Ukraine ."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Solovei","sequence":"additional","affiliation":[{"name":"D. Halytskii L\u2019viv National Medical University , Lviv , Ukraine ."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.","family":"Shargorodska","sequence":"additional","affiliation":[{"name":"Institute of Hereditary Pathology of the Ukrainian National Academy of Medical Sciences , Lviv , Ukraine ."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Makukh","sequence":"additional","affiliation":[{"name":"Institute of Hereditary Pathology of the Ukrainian National Academy of Medical Sciences , Lviv , Ukraine ."},{"name":"Scientific Medical Genetic Center LeoGENE, LTD , Lviv , Ukraine ."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2023,5,2]]},"reference":[{"key":"2026042718410242697_j_bjmg-2022-0018_ref_001","doi-asserted-by":"crossref","unstructured":"Dwyer E, Hyland J, Modaff P, Pauli RM. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 2010; 152 a (12): 3043-50.","DOI":"10.1002\/ajmg.a.33736"},{"key":"2026042718410242697_j_bjmg-2022-0018_ref_002","unstructured":"Szczepaniak-Kubat A, Tesiorowski M, Merc-Go\u0142ebiowska Z, Jakubowska-Pietkiewicz E. Diastrophic dysplasia in a seven-year-old girl. Case study. Ortop Traumatol Rehabil. 2010 May-Jun;12(3): 257-63"},{"key":"2026042718410242697_j_bjmg-2022-0018_ref_003","unstructured":"Pineda T, Rossi A, Bonaf\u00e8 L, Superti-Furga A, Velasco Harv M. Report of a novel mutation in the SLC26A2 gene found in a Colombian adult patient with diastrophic dysplasia. Revista de la Facultad de Medicina. 2013; 61(3): 255-259."},{"key":"2026042718410242697_j_bjmg-2022-0018_ref_004","unstructured":"Diastrophic Dysplasia. 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