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MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype.

Journal of pediatric gastroenterology and nutrition - 1 May 2022

Matarazzo Lorenza, Bianco Anna Monica, Athanasakis Emmanouil, Serveres Marco, Francalanci Paola, Cenacchi Giovanna, Maggiore Giuseppe, D'Adamo Adamo Pio

Abstract excerpt

OBJECTIVES: Progressive familial intrahepatic cholestasis is an expanding group of autosomal recessive intrahepatic cholestatic disorders. Recently, next-generation sequencing allowed identifying new genes responsible for new specific disorders. Two biochemical phenotypes have been identified according to gamma-glutamyltransferase (GGT) activity. Mutations of the myosin 5B gene (MYO5B) are known to cause...

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Cholestasis
Cholestasis, Intrahepatic
gamma-Glutamyltransferase
Mutation
Myosin Heavy Chains

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35129155
DOI: 10.1097/MPG.0000000000003399

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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