A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene

To revisit the autosomal dominant Sorsby fundus dystrophy (SFD) as a syndromic condition including late-onset pulmonary disease. We report clinical and imaging data of ten affected individuals from 2 unrelated families with SFD and carrying heterozygous TIMP3 mutations (c.572A > G, p.Y191C, exon...

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Detalles Bibliográficos
Autores principales: Meunier, Isabelle, Bocquet, Béatrice, Labesse, Gilles, Zeitz, Christina, Defoort-Dhellemmes, Sabine, Lacroux, Annie, Mauget-Faysse, Martine, Drumare, Isabelle, Gamez, Anne-Sophie, Mathieu, Cyril, Marquette, Virginie, Sagot, Lola, Dhaenens, Claire-Marie, Arndt, Carl, Carroll, Patrick, Remy-Jardin, Martine, Cohen, Salomon Yves, Sahel, José-Alain, Puech, Bernard, Audo, Isabelle, Mrejen, Sarah, Hamel, Christian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5013278/
https://www.ncbi.nlm.nih.gov/pubmed/27601084
http://dx.doi.org/10.1038/srep32544

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