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Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia

Achromatopsia (ACHM) is a rare autosomal recessively inherited retinal disease characterized by congenital photophobia, nystagmus, low visual acuity, and absence of color vision. ACHM is genetically heterogeneous and can be caused by biallelic mutations in the genes CNGA3, CNGB3, GNAT2, PDE6C, PDE6H...

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Detalles Bibliográficos
Autores principales:	Kohl, Susanne, Baumann, Britta, Dassie, Francesca, Mayer, Anja K., Solaki, Maria, Reuter, Peggy, Kühlewein, Laura, Wissinger, Bernd, Maffei, Pietro
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8346044/ https://www.ncbi.nlm.nih.gov/pubmed/34360608 http://dx.doi.org/10.3390/ijms22157842

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