Condition: LEBER CONGENITAL AMAUROSIS 13


rs104894472 in GPHN;RDH12 gene and LEBER CONGENITAL AMAUROSIS 13 PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

PMID 22065924 2011 RDH12 retinopathy: novel mutations and phenotypic description.

PMID 24474277 2014 Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

PMID 26306921 2015 Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

PMID 19140180 2009 Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

PMID 19956407 2009 Molecular characterization of retinitis pigmentosa in Saudi Arabia.

PMID 26124963 2015 Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.

rs104894471 in RDH12;GPHN gene and LEBER CONGENITAL AMAUROSIS 13 PMID 26497376 2015 Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.

PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

PMID 29186038 2017 Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

PMID 26355662 2016 Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies.

PMID 17389517 2007 The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

PMID 17964524 2007 Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

rs104894476 in RDH12;GPHN;ZFYVE26 gene and LEBER CONGENITAL AMAUROSIS 13 PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

PMID 24474277 2014 Identification of mutations causing inherited retinal degenerations in the israeli and palestinian populations using homozygosity mapping.

PMID 16269441 2005 Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

PMID 22065924 2011 RDH12 retinopathy: novel mutations and phenotypic description.

PMID 26047050 2015 Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

PMID 17389517 2007 The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

PMID 23847139 2013 Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

rs28940313 in ZFYVE26;RDH12;GPHN gene and LEBER CONGENITAL AMAUROSIS 13 PMID 15322982 2004 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

PMID 15258582 2004 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.