{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T05:05:09Z","timestamp":1789967109940,"version":"4.0.1"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:00:00Z","timestamp":1789948800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mandibuloacral dysplasia type B (MADB) is a rare autosomal recessive disorder characterized by heterogeneous manifestations, which is an extremely rare disorder with only a limited number of reported cases. Mutations in\n                      <jats:italic>ZMPSTE24<\/jats:italic>\n                      are associated with MADB.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      We reported a newborn who presented with core MADB manifestations (lipodystrophy, mandibular hypoplasia, joint contractures, shortened phalanges, and hypoplastic nails). We performed whole-genome sequencing and identified a rare novel a compound heterozygous\n                      <jats:italic>ZMPSTE24<\/jats:italic>\n                      variant [GRCh37] del(1) (p34.2) NC_000001.10:g.40747005_41013142del and g.40737681C &amp;gt; T. To date, only 12 pediatric MADB cases have been reported overall. Affected individuals typically exhibit heterogeneous manifestations, including skeletal abnormalities (mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, and joint contractures), cutaneous atrophy, lipodystrophy, and mottled cutaneous pigmentation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      This study expands the genotypic and clinical phenotypic spectrum of\n                      <jats:italic>ZMPSTE24<\/jats:italic>\n                      -related MADB and reinforces the utility of whole-genome sequencing in early diagnosis and genetic counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fendo.2026.1941254","type":"journal-article","created":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T04:28:46Z","timestamp":1789964926000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Novel rare ZMPSTE24 variation in a Han Chinese family with early onset mandibuloacral dysplasia type B lipodystrophy"],"prefix":"10.3389","volume":"17","author":[{"given":"Shanshan","family":"Xue","sequence":"first","affiliation":[{"name":"Department of Neonatology, Tianjin Children\u2019s Hospital","place":["Tianjin, China"]},{"name":"Department of Neonatology, Children\u2019s Hospital, Tianjin University","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wujuan","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Tianjin Children\u2019s Hospital","place":["Tianjin, China"]},{"name":"Department of Neonatology, Children\u2019s Hospital, Tianjin University","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Tianjin Children\u2019s Hospital","place":["Tianjin, China"]},{"name":"Department of Neonatology, Children\u2019s Hospital, Tianjin University","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lihong","family":"Hao","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Tianjin Children\u2019s Hospital","place":["Tianjin, China"]},{"name":"Department of Neonatology, Children\u2019s Hospital, Tianjin University","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,21]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1080\/19491034.2023.2288476","article-title":"The farnesyl 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