Fleck Retina of Kandori Associated with a De Novo Mutation of a Heterozygous Variant in the CAMK2A Gene

Klin Monbl Augenheilkd. 2024 Apr;241(4):482-484. doi: 10.1055/a-2229-2877. Epub 2024 Apr 23.

Authors

Nathalie Voide¹, Manon Macherel², Emmanuelle Ranza³

Affiliations

¹ Ophthalmology, Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland.
² Neuropediatrician, developmental pediatrics practice, Lausanne, Switzerland.
³ Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.

PMID: 38653279
DOI: 10.1055/a-2229-2877

No abstract available

Publication types

Case Reports

MeSH terms

Calcium-Calmodulin-Dependent Protein Kinase Type 2* / genetics
Child
Female
Heterozygote
Humans
Mutation
Retinal Diseases / genetics

Substances

Calcium-Calmodulin-Dependent Protein Kinase Type 2