Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Kathryn Becker, PhD"'
Autor:
Andrew Waack, BS, Jordan Norris, BS, Kathryn Becker, PhD, Alastair Hoyt, MD, Jason Schroeder, MD
Publikováno v:
Radiology Case Reports, Vol 18, Iss 2, Pp 584-590 (2023)
Labrune syndrome is an extremely rare disorder characterized by a radiological triad of leukoencephalopathy, cerebral calcifications, and cysts. The condition is the result of an autosomal mutation in the SNORD118 gene, a non-protein encoding gene th
Externí odkaz:
https://doaj.org/article/3d6473e6071d47b8ae07bbcef6db0fa8
