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Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic cone-rod dystro...

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Autors principals: Polok, Bozena, Escher, Pascal, Ambresin, Aude, Chouery, Eliane, Bolay, Sylvain, Meunier, Isabelle, Nan, Francis, Hamel, Christian, Munier, Francis L., Thilo, Bernard, Mégarbané, André, Schorderet, Daniel F.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668018/
https://ncbi.nlm.nih.gov/pubmed/19200527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.01.006
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