Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy

Soucy, M., Kolesnikova, M., Kim, A. H., & Tsang, S. H. (2023). Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy. Documenta Ophthalmologica, 146(3), 267–272. https://doi.org/10.1007/s10633-022-09916-5
Authors:
Megan Soucy
Masha Kolesnikova
Angela H Kim
Stephen H Tsang
Affiliated Authors:
Megan Soucy
Masha Kolesnikova
Angela H Kim
Stephen H Tsang
Columbia Affiliation:
Subjects:
Cone-Rod Dystrophies (MeSH)
Retinitis Pigmentosa (MeSH)
Author Keywords:
inherited retinal dystrophy
cone-rod dystrophy
incomplete penetrance
prph2
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Publication Type:
Article
Unique ID:
10.1007/s10633-022-09916-5
PMID:
36609934
DOI:
10.1007/s10633-022-09916-5
Journal:
Documenta Ophthalmologica
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: