{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T11:33:53Z","timestamp":1772105633895,"version":"3.50.1"},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec id=\"j_jpem-2019-0107_s_999\">\n<jats:title id=\"d3356547e59821\">Background<\/jats:title>\n<jats:p>Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by pathogenic variants in the <jats:italic>LMNA<\/jats:italic> gene, which leads to premature aging. The median life expectancy is shortened to 13 years due to cardiovascular complications.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2019-0107_s_998\">\n<jats:title id=\"d3356547e59832\">Case report<\/jats:title>\n<jats:p>We present a boy born with a pathogenic <jats:italic>LMNA<\/jats:italic> variant c.433G\u2009&gt;\u2009A, which causes atypical progeria syndrome (APS) and was previously described in one single patient. When investigated for poor growth prior to the diagnosis of APS, his laboratory tests revealed growth hormone (GH) deficiency and magnetic resonance imaging (MRI) of the midbrain showed partial empty sella. GH treatment had only a limited and transient effect. His first ischemic complication manifested at age 4.2 years; at the age of 7 years, he had a fatal haemorrhagic stroke.<\/jats:p><\/jats:sec>\n<jats:sec id=\"j_jpem-2019-0107_s_997\">\n<jats:title id=\"d3356547e59843\">Conclusion<\/jats:title>\n<jats:p>To the best of our knowledge, this is the first patient with APS showing partial empty sella and GH deficiency that might have contributed to his poor growth. GH failed to improve long-term outcome.<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2019-0107","type":"journal-article","created":{"date-parts":[[2019,6,14]],"date-time":"2019-06-14T09:15:23Z","timestamp":1560503723000},"page":"775-779","source":"Crossref","is-referenced-by-count":7,"title":["Short stature in a boy with atypical progeria syndrome due to LMNA c.433G&gt;A [p.(Glu145Lys)]: apparent growth hormone deficiency but poor response to growth hormone therapy"],"prefix":"10.1515","volume":"32","author":[{"given":"Ledjona","family":"Toni","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petra","family":"Du\u0161\u00e1tkov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana","family":"Novotn\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Zemkov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0160t\u011bp\u00e1nka","family":"Pr\u016fhov\u00e1","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Lebl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref181","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1101\/gad.960502","article-title":"Nuclear lamins: building blocks of nuclear architecture","volume":"16","year":"2002","journal-title":"Genes Dev"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1038\/ejhg.2014.239","article-title":"Truncated prelamin A expression in HGPS-like patients: a transcriptional study","volume":"23","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"ref291","first-page":"633","article-title":"Growth hormone therapy in progeria","volume":"20","year":"2007","journal-title":"J Pediatr Endocrinol Metab"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/S0022-3476(72)80229-4","article-title":"The Hutchinson-Gilford progeria syndrome. 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