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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Библиографические подробности
Опубликовано в: :Mol Genet Metab Rep
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2016
Предметы:
Case Report
Online-ссылка: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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