{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T13:16:39Z","timestamp":1778505399982,"version":"3.51.4"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,1,25]],"date-time":"2022-01-25T00:00:00Z","timestamp":1643068800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005668","name":"Funda\u00e7\u00e3o de Apoio \u00e0 Pesquisa do Distrito Federal","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005668","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report an individual from Brazil with SHORT syndrome. The term SHORT stands for its common characteristics: short stature (S), hyperextensibility of joints, and\/or inguinal hernia (H), ocular depression (O), Rieger anomaly (R), and teething delay (T). In addition to most of the clinical signs previously described in SHORT syndrome, the patient presented here also shows microcephaly and intellectual disability. Diagnosis was confirmed by exome sequencing revealing a novel heterozygous variant c.1456G&gt;A (p.Ala486Thr) at <jats:italic>PIK3R1<\/jats:italic>. Human recombinant growth hormone (r\u2010hGH) therapy was administered prior to diagnosis; however, the use of r\u2010hGH may have had a role in anticipating and worsening the glucose metabolic profile in the patient, as previously described. This article contributes to providing a better understanding of the SHORT syndrome genotype and its correlation with the phenotype, by comparing with it other reported cases.<\/jats:p>","DOI":"10.1002\/ajmg.a.62660","type":"journal-article","created":{"date-parts":[[2022,1,26]],"date-time":"2022-01-26T06:24:34Z","timestamp":1643178274000},"page":"1635-1638","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>SHORT<\/scp> syndrome in an adult Brazilian patient"],"prefix":"10.1002","volume":"188","author":[{"given":"Ana Caroline G.","family":"Gon\u00e7alves","sequence":"first","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia N.","family":"Moretti","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara S.","family":"Cordoba","sequence":"additional","affiliation":[{"name":"Hospital Universit\u00e1rio Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata S.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Hospital Universit\u00e1rio Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernanda S. C.","family":"Lopes","sequence":"additional","affiliation":[{"name":"Hospital Universit\u00e1rio Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silviene F.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Departamento de Gen\u00e9tica e Morfologia, Instituto de Ci\u00eancias Biol\u00f3gicas Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5121-8814","authenticated-orcid":false,"given":"Aline","family":"Pic\u2010Taylor","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Departamento de Gen\u00e9tica e Morfologia, Instituto de Ci\u00eancias Biol\u00f3gicas Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiz Claudio","family":"Castro","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Hospital Universit\u00e1rio Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Faculdade de Medicina Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6161-0510","authenticated-orcid":false,"given":"Juliana F.","family":"Mazzeu","sequence":"additional","affiliation":[{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias da Sa\u00fade Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Programa de P\u00f3s\u2010gradua\u00e7\u00e3o em Ci\u00eancias M\u00e9dicas Universidade de Bras\u00edlia  Bras\u00edlia Brazil"},{"name":"Faculdade de Medicina Universidade de Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,1,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12688"},{"key":"e_1_2_8_3_1","volume-title":"GeneReviews\u00ae","author":"Innes A. 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