Gefleckte Retina nach Kandori ist mit einer De-novo-Mutation einer heterozygoten Variante im CAMK2A-Gen assoziiert [Fleck Retina of Kandori Associated with a De Novo Mutation of a Heterozygous Variant in the CAMK2A Gene]
Details
Serval ID
serval:BIB_3F1D6883F651
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Gefleckte Retina nach Kandori ist mit einer De-novo-Mutation einer heterozygoten Variante im CAMK2A-Gen assoziiert [Fleck Retina of Kandori Associated with a De Novo Mutation of a Heterozygous Variant in the CAMK2A Gene]
Journal
Klinische Monatsblatter fur Augenheilkunde
ISSN
1439-3999 (Electronic)
ISSN-L
0023-2165
Publication state
Published
Issued date
04/2024
Peer-reviewed
Oui
Volume
241
Number
4
Pages
482-484
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Keywords
Female, Humans, Calcium-Calmodulin-Dependent Protein Kinase Type 2/genetics, Heterozygote, Mutation, Retinal Diseases/genetics, Child
Pubmed
Web of science
Create date
29/04/2024 10:06
Last modification date
22/06/2024 7:07
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