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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Case Report
Acesso em linha: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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