{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T06:59:25Z","timestamp":1761375565805,"version":"build-2065373602"},"reference-count":14,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T00:00:00Z","timestamp":1759968000000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Pallister\u2010Hall syndrome (PHS) is an extremely rare genetic disorder. It presents as a polymalformative syndrome affecting craniofacial structures, the central nervous system, limbs, various internal organs, and the endocrine system. It is considered a ciliopathy, as it is associated with loss\u2010of\u2010function variants in the GLI3 gene, a transcription factor essential for primary cilium signaling. The syndrome shows marked clinical heterogeneity depending on the type of genetic variant, which makes diagnosis challenging. It is usually suspected at an early age when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations are often linked to the hamartoma, further complicating diagnosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>A 23\u2010year\u2010old Colombian patient presented with a history of hypothalamic hamartoma, gelastic seizures, postaxial polydactyly of hands and feet, and craniofacial dysmorphisms. Physical examination revealed dolichocephaly, bilateral epicanthus, broad nasal bridge, short and broad neck, mild cervical kyphosis, mild scoliosis, micrognathia, bilateral ulnar deviation of the fourth and fifth fingers, and overlapping toes on both feet. No genital anomalies were found. Neuropsychological evaluation reported a borderline intellectual quotient of 78. Whole\u2010exome sequencing identified a de novo heterozygous pathogenic variant in GLI3 (c.2151del; p.(Gln71HisfsTer16)), confirmed by Sanger sequencing.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We report the first case described in Colombia of a previously unreported truncating genetic variant. We performed a clinical\u2013molecular correlation in a 23\u2010year\u2010old adult whose diagnosis of PHS was delayed until adulthood, years after the initial identification of a hypothalamic hamartoma, refractory gelastic seizures, polydactyly, and mild cognitive impairment. This case broadens the clinical spectrum regarding the viability of patients with PHS into adulthood, showing that it is not restricted to the severe neonatal or infantile presentations classically described.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70146","type":"journal-article","created":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T07:36:21Z","timestamp":1759995381000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister\u2010Hall Syndrome: A Clinical Report"],"prefix":"10.1002","volume":"13","author":[{"given":"Sebasti\u00e1n","family":"Bonilla\u2010Navarrete","sequence":"first","affiliation":[{"name":"Fundaci\u00f3n Valle del Lili, Departamento de Gen\u00e9tica Cl\u00ednica  Cali Colombia"},{"name":"Facultad de Ciencia de la Salud Universidad Icesi  Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3913-4597","authenticated-orcid":false,"given":"Luis Eduardo","family":"Prieto","sequence":"additional","affiliation":[{"name":"Facultad de Ciencia de la Salud Universidad Icesi  Cali Colombia"},{"name":"Fundaci\u00f3n Valle del Lili, Centro de Investigaciones Cl\u00ednicas  Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Valentina","family":"Carvajal","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Valle del Lili, Departamento de Gen\u00e9tica Cl\u00ednica  Cali Colombia"},{"name":"Facultad de Ciencia de la Salud Universidad Icesi  Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge Andr\u00e9s","family":"Olave\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Facultad de Ciencia de la Salud Universidad Icesi  Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6417-0656","authenticated-orcid":false,"given":"Lisa Ximena","family":"Rodriguez\u2010Rojas","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Valle del Lili, Departamento de Gen\u00e9tica Cl\u00ednica  Cali Colombia"},{"name":"Facultad de Ciencia de la Salud Universidad Icesi  Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9078-1127","authenticated-orcid":false,"given":"Jose Antonio","family":"Nastasi\u2010Catanese","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Valle del Lili, Departamento de Gen\u00e9tica Cl\u00ednica  Cali Colombia"},{"name":"Facultad de Ciencia de la Salud Universidad Icesi  Cali Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,10,9]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63306"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.62"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.6249"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2023.106261"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320070110"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.4103\/0377-4929.94873"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-266"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31999"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33495"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2006.00114.x"},{"key":"e_1_2_12_12_1","unstructured":"PubMed.2024.\u201cFamilial Pallister\u2010Hall in Adulthood.\u201dhttps:\/\/pubmed.ncbi.nlm.nih.gov\/29106787\/."},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2024.01.026"},{"issue":"1","key":"e_1_2_12_14_1","first-page":"33","article-title":"Syndromal Hypothalamic Hamartoblastoma With Holoprosencephaly Sequence, Microphthalmia, Pulmonary Malformations, Radial Hypoplasia and Mullerian Regression: Further Delineation of a New Syndrome?","volume":"4","author":"Verloes A.","year":"1995","journal-title":"Clinical Dysmorphology"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fsurg.2021.734757"}],"container-title":["Molecular Genetics &amp; 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