Article
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.
Journal of medical genetics - 1 Oct 2010
Ostergaard E, Batbayli M, Duno M, Vilhelmsen K, Rosenberg T
Abstract excerpt
BACKGROUND: 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. METHODS AND RESULTS: We identified a small consanguineous family with six patients with cone-rod dystrophy from the Faroe Islands....
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