Condition: RETINITIS PIGMENTOSA 59


rs147394623 in DHDDS gene and RETINITIS PIGMENTOSA 59 PMID 21295283 2011 Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.

PMID 22110072 2011 Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.

PMID 24664694 2014 Mutation K42E in dehydrodolichol diphosphate synthase (DHDDS) causes recessive retinitis pigmentosa.

PMID 28130426 2017 Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.

PMID 25066056 2014 Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation.

PMID 21295282 2011 A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

PMID 27343064 2016 A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.