Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy.

Published in: Ophthalmic genetics (2020)

We report a case of progressive rod-cone dystrophy caused by a novel mutation in SLC4A7, a gene coding the sodium bicarbonate cotransporter NBC3, underscoring the importance of ion homeostasis for photoreceptor function and maintenance.

Keyphrases

multiple sclerosis
copy number
early onset
genome wide
genome wide identification
intellectual disability
autism spectrum disorder
transcription factor