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Article

Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.

Molecular genetics & genomic medicine - 1 Jan 2020

Tian Yuan, Zhang Linlin, Li Ying, Gao Jinshuang, Yu Haiyang, Guo Yaqing, Jia Liting

Abstract excerpt

BACKGROUND: Peroxisome biogenesis disorder 14B (PBD14B) is an autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy peroxisome biogenesis disorders are genetically heterogeneous group of disorders caused by biallelic mutations in peroxin (PEX) genes. METHODOLOGY/LABORATORY EXAMINATION: DNA of...

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PMID: 31724321
DOI: 10.1002/mgg3.1042
PMCID: PMC6978261

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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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