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Keywords: Aniridia
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Journal Articles
Journal: Development
Development (2021) 148 (16): dev188755.
Published: 26 August 2021
... ataxia and aniridia in individuals with Gillespie syndrome (GLSP). However, the pathogenic mechanisms underlying aniridia remain unclear. We identified a de novo GLSP mutation hotspot in the 3′-region of ITPR1 in five individuals with GLSP. Furthermore, RNA-sequencing and immunoblotting revealed an eye...
Includes: Supplementary data