Genotype correlates with clinical course and outcome of children with tight junction protein 2 (TJP2) deficiency-related cholestasis.

doi:10.1097/HEP.0000000000000828

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Article

Genotype correlates with clinical course and outcome of children with tight junction protein 2 (TJP2) deficiency-related cholestasis.

Hepatology (Baltimore, Md.) - 1 Sept 2024

Lal Bikrant Bihari, Alam Seema, Sibal Anupam, Kumar Karunesh, Hosaagrahara Ramakrishna Somashekara, Shah Vaibhav, Dheivamani Nirmala, Bavdekar Ashish, Nagral Aabha, Wadhwa Nishant, Maria Arjun, Shah Aashay, Shah Ira, Nalwalla Zahabiya, Snehavardhan Pandey, Srikanth K P, Gupta Subhash, Sivaramakrishnan Viswanathan M, Waikar Yogesh, Suchismita Arya, Ashritha A, Sood Vikrant, Khanna Rajeev

Abstract excerpt

BACKGROUND AND AIMS: The study aimed to describe the clinical course and outcomes, and analyze the genotype-phenotype correlation in patients with tight junction protein 2 (TJP2) deficiency. APPROACH AND RESULTS: Data from all children with chronic cholestasis and either homozygous or compound heterozygous mutations in TJP2 were extracted and analyzed. The patients were categorized into 3 genotypes: TJP2-A...

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PMID: 38447037
DOI: 10.1097/HEP.0000000000000828

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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