{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T05:48:32Z","timestamp":1789710512616,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000},"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 Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Progressive familial intrahepatic cholestasis (PFIC) syndromes are rare autosomal recessive disorders. We present the first detailed phenotype\u2013genotype of PFIC children with normal gamma\u2010glutamyltransferase (GGT) [normal GGT\/PFIC] in an African population. Thirty\u2010one pediatric patients belonging to 28 unrelated Egyptian families with normal GGT\/PFIC were reported. Clinical, biochemical, histopathological, and genetic data were systematically analyzed. Patients were 15 males\/16 females (55\u2009\u00b1\u200952\u2009months at diagnosis). Apart from cholestasis, clinical features included severe pruritus (visual analogue scale 7.5\u2009\u00b1\u20093.4), hepatomegaly (80.6%), sleep deprivation (41.9%), and splenomegaly (19.4%). 13\/28 families had\n                    <jats:italic>ABCB11<\/jats:italic>\n                    variants (PFIC2), 6\/28 families had\n                    <jats:italic>ATP8B1<\/jats:italic>\n                    (PFIC1) and\n                    <jats:italic>TJP2<\/jats:italic>\n                    (PFIC4) variants each, 2\/28 had\n                    <jats:italic>MYO5B<\/jats:italic>\n                    variants (PFIC10), and one family had\n                    <jats:italic>USP53<\/jats:italic>\n                    variants (PFIC7). Twenty\u2010five disease\u2010causing variants were reported, including 16 novel variants. PFIC1 patients were more severely affected compared to other PFIC syndromes, as the incidence of growth retardation, sibling deaths, skin changes, and progression to biliary diversion were all significantly higher (p value 0.006, 0.012, 0.037, and 0.012, respectively). In contrast, none of the 13 PFIC2 children progressed to biliary diversion, and all four PFIC10 children had normal liver transaminases. Our study expands the global phenotypic and genotypic knowledge of normal GGT\/PFIC and will facilitate better care for the syndrome in Egypt.\n                  <\/jats:p>","DOI":"10.1111\/cge.70004","type":"journal-article","created":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T20:15:18Z","timestamp":1750364118000},"page":"141-148","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal\n                    <scp>GGT<\/scp>\n                    : 31 Pediatric Patients and 16 Novel Variants"],"prefix":"10.1111","volume":"109","author":[{"given":"Nehal M.","family":"Elkoofy","sequence":"first","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine, Cairo University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mortada H.","family":"El\u2010Shabrawi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine, Cairo University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3154-1948","authenticated-orcid":false,"given":"Mohamed A.","family":"Elmonem","sequence":"additional","affiliation":[{"name":"Department of Clinical and Chemical Pathology Faculty of Medicine, Cairo University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,6,19]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-025-03599-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12456"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.21608\/efmj.2022.118405.1093"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics12051169"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"issue":"5","key":"e_1_2_8_8_1","first-page":"497","article-title":"Visual Analogue Scale: Evaluation of the Instrument for the Assessment of Pruritus","volume":"92","author":"Reich A.","year":"2012","journal-title":"ActaDermVenereol"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/1319-3767.80387"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.transproceed.2003.10.047"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinre.2018.07.010"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.639674"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/liv.15200"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/PG9.0000000000000309"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000003399"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0b013e318212ec87"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.26974"}],"container-title":["Clinical 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