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

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BACKGROUND: Optic atrophy-13 with retinal and foveal abnormalities (OPA13) (MIM #165510) is a mitochondrial disease in which apparent bilateral optic atrophy is present and sometimes followed by retinal pigmentary changes or photoreceptors degeneration. OPA13 is caused by heterozygous mutation in th...

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Detalles Bibliográficos
Autores principales: Chang, Yin-Hsi, Kang, Eugene Yu-Chuan, Liu, Laura, Jenny, Laura A., Khang, Rin, Seo, Go Hun, Lee, Hane, Chen, Kuan-Jen, Wu, Wei-Chi, Hsiao, Meng-Chang, Wang, Nan-Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233871/
https://www.ncbi.nlm.nih.gov/pubmed/37259171
http://dx.doi.org/10.1186/s13023-023-02748-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10233871/
https://www.ncbi.nlm.nih.gov/pubmed/37259171
http://dx.doi.org/10.1186/s13023-023-02748-9

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