Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel <i>GSN</i> Variant p.Glu580Lys

Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel <i>GSN</i> Variant p.Glu580Lys

Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic <i>GSN</i> variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel <i>GSN</i> variant p...

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Bibliographic Details
Main Authors: Maja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:International Journal of Molecular Sciences
Subjects:
gelsolin amyloidosis
Meretoja syndrome
lattice corneal dystrophy
optic neuropathy
<i>GSN</i>
cutis laxa
Online Access:https://www.mdpi.com/1422-0067/22/3/1084

Internet

https://www.mdpi.com/1422-0067/22/3/1084

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