{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,23]],"date-time":"2026-05-23T05:08:36Z","timestamp":1779512916240,"version":"3.53.1"},"reference-count":37,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T00:00:00Z","timestamp":1777248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T00:00:00Z","timestamp":1777248000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Shwachman\u2010Diamond syndrome type 2 (SDS2) is a rare ribosomopathy caused by biallelic mutations in the\n                      <jats:italic>EFL1<\/jats:italic>\n                      gene. This condition presents with features similar to classic SDS1 such as pancreatic insufficiency and haematologic abnormalities.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      We report a Palestinian female infant admitted to the NICU at H\u2010Clinic Hospital, Ramallah, in January 2023, with a homozygous mutation in the\n                      <jats:italic>EFL1<\/jats:italic>\n                      gene (c.3284G&gt;A; p.Arg1095Gln), identified through whole exome sequencing and confirmed by Sanger sequencing. In addition to typical SDS2 features\u2014pancytopenia, pancreatic insufficiency and growth failure\u2014the patient exhibited unique manifestations, including ROP\u2010like retinal changes, infantile esotropia with inferior oblique overaction, and elevated ACTH and 17\u2010hydroxyprogesterone levels, indicating adrenal dysfunction.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Findings<\/jats:title>\n                    <jats:p>These findings expand the SDS2 phenotype to include novel ocular and endocrine involvement. No other pathogenic variants were identified by bioinformatic analysis. The recurrence of this variant in unrelated Palestinian families suggests a possible founder effect.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case underscores the importance of extended genetic testing and multidisciplinary evaluation in rare syndromes. It highlights the need for broader awareness of SDS2 among endocrinologists and ophthalmologists due to the novel clinical manifestations observed.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70226","type":"journal-article","created":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T16:04:20Z","timestamp":1777305860000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Homozygous Pathogenic Variant in Elongation Factor\u2010Like 1 (\n                    <i>EFL1<\/i>\n                    ) as a Causal Factor in Shwachman\u2010Diamond Syndrome 2 in a Palestinian Child, With Distinct Ocular Manifestations"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1661-3090","authenticated-orcid":false,"given":"Ibrahim","family":"Taha","sequence":"first","affiliation":[{"name":"Optometry Department Arab American University  Ramallah Palestine"},{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0066-5195","authenticated-orcid":false,"given":"Antonella","family":"Minelli","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelrahman","family":"Swalmeh","sequence":"additional","affiliation":[{"name":"Paediatric Intensive Care, H. 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