{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T12:11:47Z","timestamp":1778155907796,"version":"3.51.4"},"reference-count":6,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T00:00:00Z","timestamp":1767571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T00:00:00Z","timestamp":1767571200000},"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":["JPGN rep."],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects. The underlying ciliopathy causing JS may also contribute to gastrointestinal symptoms and immune dysregulation via Wnt signaling and impaired epithelial maintenance. Dysmotility including Hirschsprung disease has been documented at increased rates in JS and in other ciliopathies. Our case series highlights how JS patients frequently exhibit feeding intolerance, vomiting, and poor growth, which may raise suspicion for an underlying gastrointestinal condition, such as eosinophilic esophagitis (EoE). Gastrointestinal symptoms often overlap with other chronic issues, delaying diagnosis and treatment, which can affect long\u2010term outcomes. These cases underscore the importance of thorough evaluations, including endoscopy, to investigate persistent symptoms suggestive of eosinophilic gastrointestinal diseases (EGIDs)\/EoE. Such vigilance promotes early targeted therapies, improves quality of life, and decreases the risk of complications including formation of esophageal strictures.<\/jats:p>","DOI":"10.1002\/jpr3.70132","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T07:36:00Z","timestamp":1767684960000},"page":"329-331","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Case series: Joubert syndrome and eosinophilic esophagitis"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-3521-4225","authenticated-orcid":false,"given":"Jonathon","family":"Schening","sequence":"first","affiliation":[{"name":"Division of Allergy, Immunology, and Retrovirology Texas Children\u2032s Hospital Houston Texas USA"},{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Leon\u2010Paredes","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas USA"},{"name":"Division of Gastroenterology and Nutrition Texas Children\u2032s Hospital Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Chiou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas USA"},{"name":"Division of Gastroenterology and Nutrition Texas Children\u2032s Hospital Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vibha","family":"Szafron","sequence":"additional","affiliation":[{"name":"Division of Allergy, Immunology, and Retrovirology Texas Children\u2032s Hospital Houston Texas USA"},{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Olive","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas USA"},{"name":"Division of Gastroenterology and Nutrition Texas Children\u2032s Hospital Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Anvari","sequence":"additional","affiliation":[{"name":"Division of Allergy, Immunology, and Retrovirology Texas Children\u2032s Hospital Houston Texas USA"},{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00058-7"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-20"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61399"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103087"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201648"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/dote.12273"}],"container-title":["JPGN Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.70132","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jpr3.70132","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jpr3.70132","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T11:31:02Z","timestamp":1778153462000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jpr3.70132"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,5]]},"references-count":6,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026,5]]}},"alternative-id":["10.1002\/jpr3.70132"],"URL":"https:\/\/doi.org\/10.1002\/jpr3.70132","archive":["Portico"],"relation":{},"ISSN":["2691-171X","2691-171X"],"issn-type":[{"value":"2691-171X","type":"print"},{"value":"2691-171X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,5]]},"assertion":[{"value":"2025-01-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}