Condition: RETINITIS PIGMENTOSA 76
rs190057175 in
POMGNT1;TSPAN1 gene and
RETINITIS PIGMENTOSA 76
PMID 17559086 2007 Molecular heterogeneity in fetal forms of type II lissencephaly.
PMID 22323514 2012 Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
PMID 23326386 2013 Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel.
PMID 18330676 2008 Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.
PMID 27391550 2016 Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.
PMID 26908613 2016 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
PMID 22554691 2012 Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease.
PMID 28688748 2017 Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.
PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
PMID 17030669 2006 POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.
rs138642840 in
TSPAN1;POMGNT1 gene and
RETINITIS PIGMENTOSA 76
PMID 11709191 2001 Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.
PMID 15466003 2004 POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.
PMID 15236414 2004 POMGnT1 gene alterations in a family with neurological abnormalities.
PMID 25390965 2012 Novel retinal findings in an infant with muscle-eye-brain disease.
PMID 17906881 2007 Novel POMGnT1 mutations define broader phenotypic spectrum of muscle-eye-brain disease.
PMID 21361872 2011 Biochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.
PMID 19299310 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.
PMID 26908613 2016 Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.
PMID 27391550 2016 Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.