Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?
The Authors report on a patient with Kearns-Sayre syndrome, large mtDNA deletion (7/kb), facial abnormalities and severe central nervous system (CNS) white matter radiological features, commonly attributed to spongy alterations. The common origin from neural crest cell (NCC) of facial structures (ca...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2017-12-01
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| Series: | La Pediatria Medica e Chirurgica |
| Subjects: | |
| Online Access: | http://www.pediatrmedchir.org/index.php/pmc/article/view/169 |