{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T06:25:49Z","timestamp":1787120749782,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,7,19]],"date-time":"2026-07-19T00:00:00Z","timestamp":1784419200000},"content-version":"vor","delay-in-days":18,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"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":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>We report a 2\u2010year\u2010old boy with a homozygous CFAP52 mutation presenting with situs inversus totalis, severe epileptic developmental encephalopathy, and global developmental delay, expanding the phenotypic spectrum of CFAP52\u2010related ciliopathies. Clinical findings included multifocal epileptiform discharges, thin corpus callosum, and a small subdural hematoma. Trio whole\u2010exome sequencing also revealed a homozygous NCAPG2 variant of uncertain significance, however, its clinical significance remains unproven and no causal relationship can be established. This case highlights the diagnostic value of comprehensive genomic testing in complex neuro\u2010visceral disorders and underscores the importance of cautious interpretation of co\u2010inherited variants in atypical ciliopathy presentations. The report follows CARE guidelines.<\/jats:p>","DOI":"10.1002\/ccr3.73165","type":"journal-article","created":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T04:00:09Z","timestamp":1784520009000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Situs Inversus Totalis and Severe Early\u2010Onset Developmental Epileptic Encephalopathy in a Child With a Homozygous\n                    <scp>CFAP52<\/scp>\n                    Mutation: A Case Report"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-1921-4328","authenticated-orcid":false,"given":"Anwar Abu","family":"Hetta","sequence":"first","affiliation":[{"name":"Department of Pediatrics Hebron Governmental Hospital  Hebron Palestine"},{"name":"College of Medicine and Health Sciences Palestine Polytechnic University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-0176-2184","authenticated-orcid":false,"given":"Lina","family":"Abughaboosh","sequence":"additional","affiliation":[{"name":"College of Medicine and Health Sciences Palestine Polytechnic University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8327-9775","authenticated-orcid":false,"given":"Jenan","family":"Al\u2010Qasrawi","sequence":"additional","affiliation":[{"name":"College of Medicine and Health Sciences Palestine Polytechnic University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-5639-8008","authenticated-orcid":false,"given":"Balqees","family":"Amro","sequence":"additional","affiliation":[{"name":"College of Medicine and Health Sciences Palestine Polytechnic University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-5345-526X","authenticated-orcid":false,"given":"Mayar","family":"Alshaer","sequence":"additional","affiliation":[{"name":"College of Medicine and Health Sciences Palestine Polytechnic University  Hebron Palestine"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,19]]},"reference":[{"issue":"3","key":"e_1_2_14_2_1","first-page":"509","article-title":"WD40\u2010Repeat Proteins in Ciliopathies and Congenital Disorders of Endocrine System","volume":"35","author":"Kim Y.","year":"2020","journal-title":"Endocrinology and Metabolism (Seoul)"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"e_1_2_14_4_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCIMAGING.118.007490"},{"key":"e_1_2_14_5_1","unstructured":"National Center for Biotechnology Information \u201cGene: CFAP52 Cilia and Flagella Associated Protein 52 (Homo sapiens) \u201dBethesda (MD): National Library of Medicine (US) 2025 accessed Jul 1 2026 https:\/\/www.ncbi.nlm.nih.gov\/gene\/146845."},{"key":"e_1_2_14_6_1","unstructured":"Online Mendelian Inheritance in Man (OMIM) \u201cHeterotaxy Visceral 10; HTX10 \u201dBaltimore (MD): Johns Hopkins University accessed Jul 1 2026 https:\/\/www.omim.org\/entry\/615874."},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010020\u201071120\u20109"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.92769"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.265"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010020\u201060589\u2010z"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.11.017"},{"key":"e_1_2_14_12_1","unstructured":"Franklin by Genoox \u201cNCAPG2 (NM_017760.7):c.2944T>C (p.Ser982Pro) Variant Interpretation \u201dTel Aviv: Genoox accessed 2026 Jul 1 https:\/\/franklin.genoox.com\/."},{"issue":"8","key":"e_1_2_14_13_1","first-page":"1725","article-title":"Subdural Hematomas in Infants With Benign Enlargement of the Subarachnoid Spaces Are Not Pathognomonic for Child Abuse","volume":"27","author":"McNeely P. 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