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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...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BMJ Group
2010
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| Materias: | |
| 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 |