Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa

Mutations in the retinol dehydrogenase 12 (RDH12) gene are primarily associated with Leber congenital amaurosis (LCA) type 13, a severe early onset autosomal recessive retinal dystrophy. Only one family with a heterozygous variant, associated with mild retinitis pigmentosa (RP), has been reported. W...

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Detalles Bibliográficos
Autores principales: Sarkar, Hajrah, Dubis, Adam M., Downes, Susan, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156618/
https://www.ncbi.nlm.nih.gov/pubmed/32322264
http://dx.doi.org/10.3389/fgene.2020.00335

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7156618/
https://www.ncbi.nlm.nih.gov/pubmed/32322264
http://dx.doi.org/10.3389/fgene.2020.00335

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