Elsevier

Data in Brief

Volume 6, March 2016, Pages 722-727
Data in Brief

Data article
Dataset for a case report of a homozygous PEX16 F332del mutation

https://doi.org/10.1016/j.dib.2015.12.011Get rights and content
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Abstract

This dataset provides a clinical description along with extensive biochemical and molecular characterization of a patient with a homozygous mutation in PEX16 with an atypical phenotype. This patient described in Molecular Genetics and Metabolism Reports was ultimately diagnosed with an atypical peroxisomal disorder on exome sequencing. A clinical timeline and diagnostic summary, results of an extensive plasma and fibroblast analysis of this patient׳s peroxisomal profile is provided. In addition, a table of additional variants from the exome analysis is provided.

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