Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
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Full title
Author / Creator
Ostergaard, E , Batbayli, M , Duno, M , Vilhelmsen, K and Rosenberg, T
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundCone-rod dystrophy is a retinal dystrophy with early loss of cone photoreceptors and a parallel or subsequent loss of rod photoreceptors. It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance.Methods and resultsWe identified a small consanguineous family with s...
Alternative Titles
Full title
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy
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Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2976051
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2976051
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.2009.069120
