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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Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Elsevier 2009
主題:
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在線閱讀: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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