Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy

PURPOSE: Inherited retinal dystrophies are a clinically and genetically heterogeneous group of disorders. Molecular diagnosis has proven utility for affected individuals. In this study, we report an individual enrolled in the Australian Inherited Retinal Disease Registry and DNA Bank diagnosed with...

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Detalles Bibliográficos
Autores principales: Souzeau, Emmanuelle, Thompson, Jennifer A., McLaren, Terri L., De Roach, John N., Barnett, Christopher P., Lamey, Tina M., Craig, Jamie E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066270/
https://www.ncbi.nlm.nih.gov/pubmed/30090012

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066270/
https://www.ncbi.nlm.nih.gov/pubmed/30090012

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