Diagnosis of a mild peroxisomal phenotype with next-generation sequencing

Peroxisomal biogenesis disorders (PBD) are caused by mutations in PEX genes, and are typically diagnosed with biochemical testing in plasma followed by confirmatory testing. Here we report the unusual diagnostic path of a child homozygous for PEX1 p.G843D. The patient presented with sensorineural he...

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Veröffentlicht in:	Molecular genetics and metabolism reports 2016-12, Vol.9, p.75-78
Hauptverfasser:	Ventura, Meredith J., Wheaton, Dianna, Xu, Mingchu, Birch, David, Bowne, Sara J., Sullivan, Lori S., Daiger, Stephen P., Whitney, Annette E., Jones, Richard O., Moser, Ann B., Chen, Rui, Wangler, Michael F.
Format:	Artikel
Sprache:	eng
Schlagworte:	Case Report Peroxisomal biogenesis disorders PEX1 p.G843D Usher syndrome Zellweger syndrome spectrum
Online-Zugang:	Volltext
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