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Article

Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2017

Ge Meng-Meng, Hu LiYuan, Li ZhiHua, Cheng GuoQiang, Yan Kai, Kong YanTing, Wang HuiJun, Yang Lin, Zhou WenHao

Abstract excerpt

Peroxisome biogenesis disorders (PBDs) represent a spectrum of human genetic disorders that are characterized by damaged peroxisome assembly. In the newborn period, the characteristics of affected patients include dysmorphic facial features, neonatal hypotonia, seizures, ocular abnormalities, poor feeding, liver cysts with hepatic dysfunction and skeletal defects. These can be caused by a defect in at least 14...

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Asian People
ATPases Associated with Diverse Cellular Activities
Exome Sequencing
Heterozygote
Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Zellweger Syndrome

Source

Identifiers

PMID: 28432012
DOI: 10.1016/j.cca.2017.04.016

Genes

PEX1

Variants

Provenance

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

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Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing.PMID 28432012Read ↗

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