{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T11:13:41Z","timestamp":1785150821298,"version":"3.55.0"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2024,9,27]],"date-time":"2024-09-27T00:00:00Z","timestamp":1727395200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Progressive familial intrahepatic cholestasis (PFIC) is a group of autosomal recessive disorders caused by defects in bile secretion or transport usually presenting as cholestasis in pediatric age. Herewith, we describe 3 PFIC cases with diagnostic challenges and highlight the role of genetic analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The clinical history, laboratory data, liver biopsy, and molecular analysis for each case were reviewed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Case 1, a Hispanic male from Puerto Rico with hepatomegaly since age 2 months, was eventually diagnosed with PFIC3 following identification of a homozygous splice site variant in ATP binding cassette subfamily B member 4 (ABCB4) (c.2784-12T&amp;gt;C) at age 17 years by whole-exome sequencing (WES). Case 2 was a 37-year-old man with a history of alcoholism, abnormal liver function tests, and ductopenia on biopsy. Molecular testing revealed a pathogenic heterozygous ABCB4 mutation (c.1633C&amp;gt;T) variant leading to a diagnosis of PFIC3. Case 3 was a 2-year-old female initially presenting as a drug-induced liver injury but was diagnosed with PFIC10 following identification of a heterozygous frameshift mutation (p.Asp300Trpfs*19) and a heterozygous missense mutation (c.1357T&amp;gt;C) in myosin VB (MYO5B) by WES.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>These PFIC cases highlight the heterogenous presentation and diagnostic challenges, and they emphasize the role of next-generation sequencing, particularly the utility of WES.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ajcp\/aqae123","type":"journal-article","created":{"date-parts":[[2024,9,28]],"date-time":"2024-09-28T03:23:27Z","timestamp":1727493807000},"page":"332-339","source":"Crossref","is-referenced-by-count":4,"title":["Expanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases"],"prefix":"10.1093","volume":"163","author":[{"given":"Jingjing","family":"Jiao","sequence":"first","affiliation":[{"name":"Department of Pathology, Yale School of Medicine , New Haven, CT ,","place":["US"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Morotti","sequence":"additional","affiliation":[{"name":"Department of Pathology, Yale School of Medicine , New Haven, CT ,","place":["US"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nafis","family":"Shafizadeh","sequence":"additional","affiliation":[{"name":"Department of Pathology, Southern California Permanente Medical Group, Woodland Hills Medical Center , Los Angeles, CA ,","place":["US"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3845-0798","authenticated-orcid":false,"given":"Dhanpat","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Pathology, Yale School of Medicine , New Haven, CT 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