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

57 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.

Originalsprog	Engelsk
Tidsskrift	Journal of Medical Genetics
Vol/bind	47
Udgave nummer	10
Sider (fra-til)	665-9
Antal sider	5
ISSN	0022-2593
DOI	https://doi.org/10.1136/jmg.2009.069120
Status	Udgivet - 1 okt. 2010

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10.1136/jmg.2009.069120

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@article{89735f5eb9ee4cfb88fca85a746f8cfd,

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",

month = oct,

day = "1",

doi = "10.1136/jmg.2009.069120",

language = "English",

volume = "47",

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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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