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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Metab Rep
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2016
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5109284/
https://ncbi.nlm.nih.gov/pubmed/27872819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.10.006
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