Cargando…
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...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4669579/ https://www.ncbi.nlm.nih.gov/pubmed/26644994 http://dx.doi.org/10.1016/j.ymgmr.2015.09.001 |