title: Dataset for a case report of a homozygous PEX16 F332del mutation.
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.
authors: Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children׳s Hospital, Houston, TX, USA.
authors: Carlos
authors: C
authors: Bacino
authors: Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
authors: Yu-Hsin
authors: YH
authors: Chao
authors: Department of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, BCM, Houston, TX, USA; Texas Children׳s Hospital, Houston, TX, USA.
authors: Elaine
authors: E
authors: Seto
authors: Department of Pediatrics, Division of Pediatric Neurology and Developmental Neuroscience, BCM, Houston, TX, USA; Texas Children׳s Hospital, Houston, TX, USA.
authors: Tim
authors: T
authors: Lotze
authors: Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA.
authors: Fan
authors: F
authors: Xia
authors: Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Richard O
authors: RO
authors: Jones
authors: Kennedy Krieger Institute, Baltimore, MD, USA.
authors: Ann
authors: A
authors: Moser
authors: Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Texas Children׳s Hospital, Houston, TX, USA.
authors: Michael F
authors: MF
authors: Wangler