A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey

We present a patient with a unique neurological phenotype with a progressive neurodegenerative. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous PEX16 mutation suggesting an atypical peroxisomal biogenesis disorder (PBD). Interestingly, the patient�...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Metab Rep
Prif Awduron: Bacino, Carlos A., Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2015
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4669579/
https://ncbi.nlm.nih.gov/pubmed/26644994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2015.09.001
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