Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling

Chang, Y.-H., Kang, E. Y.-C., Liu, L., Jenny, L. A., Khang, R., Seo, G. H., Lee, H., Chen, K.-J., Wu, W.-C., Hsiao, M.-C., & Wang, N.-K. (2023). Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling. Orphanet Journal of Rare Diseases, 18(1). https://doi.org/10.1186/s13023-023-02748-9
Authors:
Yin-Hsi Chang
Eugene Yu-Chuan Kang
Laura Liu
Laura A. Jenny
Rin Khang
Go Hun Seo
Hane Lee
Kuan-Jen Chen
Wei-Chi Wu
Meng-Chang Hsiao
Nan-Kai Wang
Affiliated Authors:
Laura A. Jenny
Meng-Chang Hsiao
Nan-Kai Wang
Columbia Affiliation:
Subjects:
Retinal Degeneration (MeSH)
Optic Atrophy (MeSH)
Mitochondrial Dynamics and Reactive Oxygen Species Regulation (OpenAlex Topic)
ATP Synthase Function and Regulation (OpenAlex Topic)
Ubiquitin-Proteasome Proteolytic Pathway (OpenAlex Topic)
Author Keywords:
gonosomal mosaicism
optic atrophy
ssbp1
whole exome sequencing
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Publication Type:
Article
Unique ID:
10.1186/s13023-023-02748-9
PMID:
37259171
DOI:
10.1186/s13023-023-02748-9
Journal:
Orphanet Journal of Rare Diseases
Publication Date:
Data Source:
Scopus
Source Link:
View Scopus Record
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Record Created: