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Article

Novel PLEC variants associated with infantile cholestasis.

Clinical genetics - 1 Dec 2024

Kor-Anantakul Phawin, Chen Huey-Ling, Chen Ya-Hui, Ittiwut Chupong, Ittiwut Rungnapa, Chaijitraruch Nataruks, Suphapeetiporn Kanya, Chongsrisawat Voranush

Abstract excerpt

Plectin is a cytoskeletal linker of intermediate filaments, encoded by the PLEC gene. Recently, plectin mutations have been identified in a pair of siblings with progressive familial intrahepatic cholestasis. Here, we reported two unrelated infants with plectinopathy causing cholestatic jaundice with novel variants in the PLEC gene. Trio exome sequencing identified compound heterozygous variants in the PLEC gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39168815
DOI: 10.1111/cge.14611

Genes

PLEC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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