Cometocolne

https://www.researchgate.net › publication
Dominant WFS1 variants were associated with abnormal reflectivity of the outer plexiform layer OPL on OCT imaging

https://read.qxmd.com › read › the-significance-of...
We report two pediatric cases referred as unregulated insulin dependent diabetes mellitus initially misdiagnosed as type 1 diabetes in whom whole exome sequencing confirmed the clinical diagnosis

https://www.sciencedirect.com › journal › diabetes-and-metabolism › vol › issue
The significance of ophthalmological evaluation in the correct diagnosis of pediatric insulin dependent diabetes mellitus lessons from novel WFS1 variants Eleni Papageorgiou Panagiotis N Toumasis

https://www.researchgate.net › profile › Eleni-Papageorgiou
This case report discusses a diagnosis of optic nerve colobomatous cyst diagnosed in an infant who presented with left exotropia and no accompanying systemic abnormalities

https://jcrpe.org › articles › early-diagnosis-of-wolfram-syndrome-by...
Ophthalmological screening can help in early diagnosis of WS in T1BDM especially when endogenous insulin secretion is preserved which would facilitate effective treatment

https://www.semanticscholar.org › paper › Optical-coherence-tomography-in...
Two pediatric cases initially misdiagnosed as type 1 diabetes in whom whole exome sequencing confirmed the clinical diagnosis of Wolfram syndrome with novel Wolfram syndrome

https://pubmed.ncbi.nlm.nih.gov
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https://link.springer.com › article
Wolfram Syndrome WFS is a rare multisystemic degenerative disease leading to premature death Clinical and genetic heterogeneity makes WFS diagnosis and management

https://www.frontiersin.org › journals › endocrinology › articles › ...
This case report describes a novel WFS1 missense variant of uncertain significance p Arg517Pro identified in a patient with early onset diabetes This finding contributes to the growing