Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.

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Title: Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level.
Authors: Khabou B; Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Sfax, Tunisia. Boudour.khabou.bio@gmail.com., Othman H; Department of Genetics, Farhat Hached University Hospital, Ibn El Jazzar St, Sousse, 4000, Tunisia.; Laboratory of cytogenetics, molecular genetics and reproductive biology (LR03SP02), Farhat Hached University Hospital, Ibn El Jazzar St, Sousse, 4000, Tunisia.; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, 9 Jubilee Road, Parktown, Johannesburg, 2193, South Africa., Guirat M; Medical Genetic Department, Hédi Chaker University Hospital, Sfax, Tunisia.; Laboratory of Molecular and Cellular Screening Processes (LPCMC), Biotechnology Center of Sfax, Sfax, Tunisia.; Faculty of Medicine of Sfax, University of Sfax, Sfax, Tunisia., Chabchoub I; Pediatric Department, Hedi Chaker University Hospital, Sfax, Tunisia., Kmiha S; Pediatric Department, Hedi Chaker University Hospital, Sfax, Tunisia., Mahjoub B; Pediatric Department, Tahar Sfar Hospital, Mahdia, Tunisia., Abdelhadi R; Centre of Biotechnology of Sfax (Tunisia), Microorganisms and Biomolecule Laboratory, and Molecular and Cellular Screening Process Laboratory, Sfax, Tunisia.; Ksentini Private Laboratory of Cytogenetics of Sfax, Sfax, Tunisia.; Ribosite Biotech Company for Research and Development in Biotechnhology, Sfax, Tunisia., Ben Mahmoud A; Neurological Disorder Research Center, Qatar Biomedical Research Institute (QBRI), Qatar Foundation, Hamad Bin Khalifa University (HBKU), Doha, Qatar., Kallel R; Department of Anatomy and Pathological Cytology, Habib Bourguiba Hospital, Sfax, Tunisia., Sellami Boudawara T; Department of Anatomy and Pathological Cytology, Habib Bourguiba Hospital, Sfax, Tunisia., Kammoun T; Pediatric Department, Hedi Chaker University Hospital, Sfax, Tunisia., Fakhfakh F; Molecular and Functional Genetics Laboratory, Faculty of Sciences, University of Sfax, Sfax, Tunisia., Hadj Kacem H; Department of Applied Biology, College of sciences, University of Sharjah, Sharjah, United Arab Emirates., Kammoun H; Medical Genetic Department, Hédi Chaker University Hospital, Sfax, Tunisia.
Source: Journal of human genetics [J Hum Genet] 2025 Jul; Vol. 70 (7), pp. 331-339. Date of Electronic Publication: 2025 Apr 18.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1435-232X
DOI:10.1038/s10038-025-01338-w