Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

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

doi:10.1136/jmg.2009.069120

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

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

58 Citations (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.

Original language	English
Journal	Journal of Medical Genetics
Volume	47
Issue number	10
Pages (from-to)	665-9
Number of pages	5
ISSN	0022-2593
DOIs	https://doi.org/10.1136/jmg.2009.069120
Publication status	Published - 1 Oct 2010

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title = "Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy",

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.",

author = "Elsebet {\O}stergaard and M Batbayli and Morten Dun{\o} and K Vilhelmsen and T Rosenberg",

year = "2010",

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T1 - Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

AU - Østergaard, Elsebet

AU - Batbayli, M

AU - Dunø, Morten

AU - Vilhelmsen, K

AU - Rosenberg, T

PY - 2010/10/1

Y1 - 2010/10/1

N2 - 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.

AB - 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.

U2 - 10.1136/jmg.2009.069120

DO - 10.1136/jmg.2009.069120

M3 - Journal article

C2 - 20805371

SN - 0022-2593

VL - 47

SP - 665

EP - 669

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 10

ER -

Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

Abstract

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