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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Détails bibliographiques
Publié dans:Sci Rep
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2016
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5013278/
https://ncbi.nlm.nih.gov/pubmed/27601084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep32544
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