{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T13:05:12Z","timestamp":1790168712756,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004564","name":"Ministarstvo Prosvete, Nauke i Tehnolo\u0161kog Razvoja","doi-asserted-by":"publisher","award":["175065"],"award-info":[{"award-number":["175065"]}],"id":[{"id":"10.13039\/501100004564","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Costello syndrome (CS) is a rare RASopathy, mostly caused by de novo heterozygous pathogenic variants in the\n                      <jats:italic>HRAS<\/jats:italic>\n                      gene. Over 80% of cases involve the germline\n                      <jats:italic>p.Gly12Ser<\/jats:italic>\n                      variant, resulting in a fairly uniform phenotype of neuro\u2010cardio\u2010facio\u2010cutaneous involvement with an increased risk of malignancy. Consequences of other rare\n                      <jats:italic>HRAS<\/jats:italic>\n                      variants are less well understood due to the limited number of reported cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>An adult, young woman was referred due to sparse, slow\u2010growing scalp hair, Blaschko\u2010linear hyperpigmentation, acanthosis nigricans, palmoplantar hyperkeratosis, and joint hyperlaxity. Molecular, imaging, and detailed laboratory studies were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Although initial clinical exome\u2010 and whole\u2010exome sequencing (WES) were inconclusive, indicating possible mosaicism, subsequent WES from hair\u2010derived DNA samples revealed somatic mosaicism for the rare\n                      <jats:italic>HRAS p.Gly13Asp<\/jats:italic>\n                      variant. Brain MRIs showed a cerebral cavernoma, while cardiological evaluation, urinalysis, abdominal, and pelvic ultrasound were unremarkable. Nevertheless, she remains under close follow\u2010up.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Among the ten reported individuals carrying the\n                      <jats:italic>p.Gly13Asp<\/jats:italic>\n                      variant, our patient is only the second with confirmed mosaicism and the fifth mosaic CS case described to date. This case expands the phenotypic spectrum of CS and highlights the need for multi\u2010tissue analysis in attenuated or atypical presentations to ensure a correct diagnosis, oncological risk assessment, and informed genetic and reproductive counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70279","type":"journal-article","created":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T11:31:26Z","timestamp":1788953486000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Costello Syndrome Associated With Somatic Mosaicism of Rare\n                    <i>p.Gly13Asp HRAS<\/i>\n                    Variant: Expanding the Phenotypic Spectrum"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4830-7514","authenticated-orcid":false,"given":"Jovan","family":"Lalosevic","sequence":"first","affiliation":[{"name":"Clinic of Dermatology and Venereology University Clinical Center of Serbia  Belgrade Serbia"},{"name":"University of Belgrade, Faculty of Medicine  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2146-4861","authenticated-orcid":false,"given":"Katarina","family":"Djordjevic","sequence":"additional","affiliation":[{"name":"Clinic of Dermatology and Venereology University Clinical Center of Serbia  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirjana","family":"Gajic\u2010Veljic","sequence":"additional","affiliation":[{"name":"Clinic of Dermatology and Venereology University Clinical Center of Serbia  Belgrade Serbia"},{"name":"University of Belgrade, Faculty of Medicine  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Pavlovic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering (IMGGE) University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9589-5502","authenticated-orcid":false,"given":"Vladimir","family":"Gasic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering (IMGGE) University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4086-6197","authenticated-orcid":false,"given":"Marina","family":"Andjelkovic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetic Engineering (IMGGE) University of Belgrade  Belgrade Serbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3926-5394","authenticated-orcid":false,"given":"Milos","family":"Nikolic","sequence":"additional","affiliation":[{"name":"Clinic of Dermatology and Venereology University Clinical Center of Serbia  Belgrade Serbia"},{"name":"University of 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