Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

Elsebet Østergaard, M Batbayli, Morten Dunø, K Vilhelmsen, T Rosenberg

55 Citationer (Scopus)

Abstract

Cone-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.
OriginalsprogEngelsk
TidsskriftJournal of Medical Genetics
Vol/bind47
Udgave nummer10
Sider (fra-til)665-9
Antal sider5
ISSN0022-2593
DOI
StatusUdgivet - 1 okt. 2010

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