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Article

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.

American journal of medical genetics. Part A - 1 Sept 2010

Mohamed Sarar, El-Meleagy Ebtisam, Nasr Abdelhaleem, Ebberink Merel S, Wanders Ronald J A, Waterham Hans R

Abstract excerpt

Peroxisomal biogenesis disorders (PBD) are groups of inherited neurometabolic disorders caused by defects in PEX genes. We report on a female infant, born to a consanguineous parents (first degree cousins), who presented with inactivity, poor sucking, and hypotonia early in the neonatal period. She had subtle dysmorphic features. Liver function tests were impaired with raised liver enzymes, conjugated and...

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Source

Identifiers

PMID: 20683989
DOI: 10.1002/ajmg.a.33560

Genes

PEX19

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.PMID 20683989Read ↗

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