Kearns-Sayre syndrome with facial and white matter extensive involvement: a (mitochondrial and nuclear gene related?) neurocristopathy?

• প্রধান লেখক: Agostino Berio (Author), Attilia Piazzi (Author), Carlo Enrico Traverso (Author)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: PAGEPress Publications, 2017-12-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...