{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T16:16:18Z","timestamp":1790007378946,"version":"4.0.1"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T00:00:00Z","timestamp":1553731200000},"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":[[2019,6]]},"abstract":"<jats:p>We report the first case of mandibuloacral dysplasia with type B lipodystrophy (MADB) in Chile, South America. MADB is a very rare illness, characterized by short stature, mandibular hypoplasia, acro\u2010osteolysis in hands, feet and clavicles, lipodystrophy, changes in skin pigments and skin calcinosis at knees and hands. Diagnosis was confirmed by molecular study that showed two compound heterozygous variants in <jats:italic>ZMPSTE24<\/jats:italic> gene, c.1085dup p.(Leu362Phefs*19) and c.794A&gt;G p.(Asn265Ser). This article could help in establishing the correlation between genotype and phenotype of this disorder, comparing with other cases previously described.<\/jats:p>","DOI":"10.1002\/ajmg.a.61139","type":"journal-article","created":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T07:59:52Z","timestamp":1553759992000},"page":"893-895","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2262-0924","authenticated-orcid":false,"given":"Pablo I.","family":"Alarc\u00f3n","sequence":"first","affiliation":[{"name":"Departamento de Medicina, Secci\u00f3n Gen\u00e9tica Hospital Cl\u00ednico Universidad de Chile  Santiago, Regi\u00f3n Metropolitana Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ignacia","family":"Mujica","sequence":"additional","affiliation":[{"name":"Facultad de Medicina Universidad San Sebasti\u00e1n  Santiago, Regi\u00f3n Metropolitana Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Sanz","sequence":"additional","affiliation":[{"name":"Departamento de Pediatr\u00eda Hospital San Juan de Dios  Santiago, Regi\u00f3n Metropolitana Chile"},{"name":"Departamento de Medicina, Secci\u00f3n Gen\u00e9tica Hospital Cl\u00ednico Universidad de Chile  Santiago, Regi\u00f3n Metropolitana Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristian J.","family":"Garc\u00eda","sequence":"additional","affiliation":[{"name":"Facultad de Medicina, Departamento de Radiolog\u00eda Pontificia Universidad Cat\u00f3lica  Santiago, Regi\u00f3n Metropolitana Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Gilgenkrantz","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9tique Humaine Facult\u00e9 de m\u00e9decine, Universit\u00e9 de Lorraine  Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg213"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33664"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-2560"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001127)95:3<293::AID-AJMG23>3.0.CO;2-5"},{"key":"e_1_2_7_6_1","first-page":"648","volume-title":"Chapter 37\u2014Lipodystrophy syndromes A2","author":"Tsoukas M. 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