{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T05:19:02Z","timestamp":1789017542535,"version":"build-2803163510"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,5,16]],"date-time":"2017-05-16T00:00:00Z","timestamp":1494892800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Kapodistrian University of Athens","award":["ELKE 56\/90\/5924, 6900-AK"],"award-info":[{"award-number":["ELKE 56\/90\/5924, 6900-AK"]}]},{"name":"Research Institute for the Study of Genetic and Malignant Disorders in Childhood"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman\u2013Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman\u2013Bodian\u2013Diamond syndrome gene (<jats:italic>SBDS<\/jats:italic>) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients.<\/jats:p>","DOI":"10.1002\/pbc.26630","type":"journal-article","created":{"date-parts":[[2017,5,16]],"date-time":"2017-05-16T11:13:14Z","timestamp":1494933194000},"source":"Crossref","is-referenced-by-count":13,"title":["The Greek Registry of Shwachman Diamond\u2010Syndrome: Molecular and clinical data"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6161-555X","authenticated-orcid":false,"given":"Polyxeni","family":"Delaporta","sequence":"first","affiliation":[{"name":"First Department of Pediatrics National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christalena","family":"Sofocleous","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National and Kapodistrian University of Athens  Athens Greece"},{"name":"Research Institute for the Study of Genetic and Malignant Disorders in Childhood \u201cAghia Sophia\u201d Children's Hospital  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Economou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics University of Thessaloniki  Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Makis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University Hospital of Ioannina  Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stavroula","family":"Kostaridou","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonis","family":"Kattamis","sequence":"additional","affiliation":[{"name":"First Department of Pediatrics National and Kapodistrian University of Athens  Athens Greece"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,5,16]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1062"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.623011"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2011.06349.x"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.125850"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051265"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.24260"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(99)70332-X"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2008.07448.x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2009.07611.x"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2008.369"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.057489"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.11.039"},{"key":"e_1_2_8_14_1","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1001\/archderm.1991.01680020093012","article-title":"Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). 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