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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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| Publicado no: | Mol Genet Metab Rep |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2015
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| Assuntos: | |
| Acesso em linha: | 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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