Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy

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 RESU...

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Detalles Bibliográficos
Autores principales: Ostergaard, E, Batbayli, M, Duno, M, Vilhelmsen, K, Rosenberg, T
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2010
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976051/
https://www.ncbi.nlm.nih.gov/pubmed/20805371
http://dx.doi.org/10.1136/jmg.2009.069120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976051/
https://www.ncbi.nlm.nih.gov/pubmed/20805371
http://dx.doi.org/10.1136/jmg.2009.069120

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