{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:22:19Z","timestamp":1790677339755,"version":"4.1.0"},"reference-count":6,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T00:00:00Z","timestamp":1573430400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Wiedemann\u2010Steiner syndrome (WSS) is a rare genetic disorder characterized by growth retardation, facial dysmorphism, hypertrichosis cubiti and neurodevelopment delay. It is caused by pathogenic variants in the <jats:italic>KMT2A<\/jats:italic> gene. This report describes two unrelated Portuguese patients, age 11 and 17\u2009years, with a phenotype concordant with WSS and clinical and molecular diagnosis of WSS by the identification of two novel frameshift variants in the <jats:italic>KMT2A<\/jats:italic> gene. This work also highlights the presence of certain clinical features in patients with growth retardation and development delay and should draw attention to the diagnosis of WSS, when hirsutism, particularly hypertrichosis cubiti is present.<\/jats:p>","DOI":"10.1002\/ajmg.a.61407","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T18:23:23Z","timestamp":1573496603000},"page":"25-28","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Wiedemann\u2010Steiner syndrome in two patients from Portugal"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3183-9154","authenticated-orcid":false,"given":"Ana","family":"Grangeia","sequence":"first","affiliation":[{"name":"Department of Medical Genetics S\u00e3o Jo\u00e3o Hospital Center  Porto Portugal"},{"name":"i3S \u2013 Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Oporto University  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Le\u00e3o","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics S\u00e3o Jo\u00e3o Hospital Center  Porto Portugal"},{"name":"Department of Genetics, Faculty of Medicine Oporto University  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla P.","family":"Moura","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics S\u00e3o Jo\u00e3o Hospital Center  Porto Portugal"},{"name":"i3S \u2013 Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade Oporto University  Porto Portugal"},{"name":"Department of Genetics, Faculty of Medicine Oporto University  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13254"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0909-0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12586"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38025"},{"key":"e_1_2_6_7_1","first-page":"198","volume-title":"Atlas of clinical syndromes : A visual aid to diagnosis for clinicians and practicing physicians","author":"Wiedemann H. 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