{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:24:58Z","timestamp":1773278698107,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T00:00:00Z","timestamp":1621987200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T00:00:00Z","timestamp":1621987200000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Trichohepatoenteric syndrome (THES) is a very rare autosomal recessive genetic disorder, which is characterized by intractable diarrhea during infancy, dysmorphic features, immunodeficiency, and a failure to thrive. There are still significant difficulties for patients and clinicians in terms of the management of THES, even though its molecular basis has been uncovered in the last decade. In this article, we have presented two cases relating to siblings that have been diagnosed with the condition. Concerning one of the patients, we described a novel variation (c.2114\u2009+\u20095G\u2009&gt;\u2009A) in the\n                    <jats:italic>TTC37<\/jats:italic>\n                    gene and a mild clinical course; meanwhile, the other one was clinically diagnosed with THES at 17\u2009years of age, but they had seizures and died suddenly. These cases expand the spectrum of clinical findings in relation to THES.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62354","type":"journal-article","created":{"date-parts":[[2021,5,26]],"date-time":"2021-05-26T06:22:58Z","timestamp":1622010178000},"page":"2873-2877","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Expanding the clinical spectrum in trichohepatoenteric syndrome"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6947-2573","authenticated-orcid":false,"given":"Sevil","family":"Dorum","sequence":"first","affiliation":[{"name":"Division of Metabolism, Department of Pediatrics University of Health Sciences, Bursa Yuksek Ihtisas Training and Research Hospital  Bursa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2289-8619","authenticated-orcid":false,"given":"Ozlem","family":"Gorukmez","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Health Sciences, Bursa Yuksek Ihtisas Training and Research Hospital  Bursa Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2017.01040"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.02.009"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(94)70118-0"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2010.02.010"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/mpg.0000000000000627"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000627"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2019.02.059"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.3.212"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/pediatric12030021"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.01036"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/2050313X18807795"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2016.5503"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62354","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62354","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62354","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T10:54:37Z","timestamp":1773226477000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62354"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,26]]},"references-count":12,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1002\/ajmg.a.62354"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62354","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,26]]},"assertion":[{"value":"2021-01-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-05-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}