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Compound Heterozygous Myosin 5B (Myo5b) Mutation with Early Onset Progressive Cholestasis and No Intestinal Failure.

Fetal and pediatric pathology - 1 Oct 2022

Vij Mukul, Shah Vaibhav

Abstract excerpt

Background:Exome sequencing studies have recently identified novel genes implicated in normal or low GGT pediatric cholestasis including myosin 5B (MYO5B). Case report: We identified novel compound heterozygote mutations in exon 14 and exon 19 of the MYO5B gene in an 18-month-old Indian child with history of fluctuating jaundice and severe pruritus. His liver biopsy showed portal and perivenular fibrosis with...

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PMID: 34338607
DOI: 10.1080/15513815.2021.1959690

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Compound Heterozygous Myosin 5B (Myo5b) Mutation with Early Onset Progressive Cholestasis and No Intestinal Failure.PMID 34338607Read ↗

Mutations in Myosin 5B in Children With Early-onset Cholestasis.Semantic proximity Read ↗

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

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Congenital Diarrhea and Cholestatic Liver Disease: Phenotypic Spectrum Associated with MYO5B MutationsSemantic proximity Read ↗

Familial intrahepatic cholestasis - An uncommon cause of jaundice in young patients.Semantic proximity Read ↗

MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.Semantic proximity Read ↗

MYO5B Novel Homozygous Variant c.2090+3A>T Causes Intron Retention and is Related To Severe Cholestasis and Intractable DiarrheaSemantic proximity Read ↗

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An overview and online registry of microvillus inclusion disease patients and their MYO5B mutations.Semantic proximity Read ↗

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