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MCDR1 gene

Known as: MCDR1, macular dystrophy, retinal, 1 (North Carolina type) 
National Institutes of Health

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North Carolina macular dystrophy

Papers overview

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2017
2017
Genome sequencing identifies a non‐coding variant in the MCDR1 locus as a cause of macular dystrophy
North Carolina macular dystrophy (NCMD) is an uncommon condition characterized by central macular abnormalities that are present… 
2017
2017
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities
ABSTRACT Background: Developmental macular disorders are a heterogeneous group of rare retinal conditions that can cause… 
2003
2003
Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss
Aim: To characterise the phenotype and identify the underlying genetic defect in a family with deafness segregating with a North… 
1998
1998
Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q
AIMS To document the phenotype of an autosomal dominant macular dystrophy diagnosed as having North Carolina macular dystrophy… 
1994
1994
Physical mapping of the MCDR1 locus
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