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�...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Metab Rep
Auteurs principaux: Bacino, Carlos A., Chao, Yu-Hsin, Seto, Elaine, Lotze, Tim, Xia, Fan, Jones, Richard O., Moser, Ann, Wangler, Michael F.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2015
Sujets:
Case Report
Accès en ligne: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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