Unusual cutaneous features associated with a heterozygous gain-of-function mutation in<i>IFIH1</i>: overlap between Aicardi-Goutières and Singleton-Merten syndromes

British Journal of Dermatology - Tập 173 Số 6 - Trang 1505-1513 - 2015
A.‐C. Bursztejn1, Tracy A. Briggs2, Yoandris del Toro Duany3, Bryan Anderson2, James O’Sullivan2, Simon G. Williams2, Christine Bodemer4, Sylvie Fraïtag5, Florian Gebhard6, Bruno Leheup7, I. Lemelle8, Anthony Oojageer2, Emmanuel Raffo7, Emmanuelle Schmitt9, Gillian Rice2, Sun Hur3, Yanick J. Crow10,2
1Service de Dermatologie et Allergologie [CHRU Nancy] (36 Quai de la Bataille 54000 Nancy - France)
2Manchester Academic Health Science Centre; University of Manchester; Genetic Medicine; Manchester U.K.
3Department of Biological Chemistry and Molecular Pharmacology [Harvard Medical School] (250 Longwood Ave Boston MA 02115 USA and Department of Cancer Biology Dana-Farber Cancer Institute Boston MA 02115 - United States)
4Dermatology Department; Imagine Institute; APHP; Université Sorbonne-Paris Cité - Hôpital Necker-Enfants Malades; 149 Rue de Sèvres 75743 Paris France
5Pathology Department; Hôpital Necker-Enfants Malades; APHP; Université Paris-Descartes; 149 Rue de Sèvres 75743 Paris France
6Medical Office; 150 Rue de Nancy 54390 Frouard France
7Paediatric and Clinical Genetic Department; CHU Nancy; 5 Allée du Morvan 54500 Vandoeuvre les Nancy France
8Paediatric Onco-Haematology Department; CHU Nancy; 5 Allée du Morvan 54500 Vandoeuvre les Nancy France
9Neuroradiology Department; CHU Nancy; 29 Avenue du Maréchal de Lattre de Tassigny 54000 Nancy France
10Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, 24, boulevard du Montparnasse, 75015 Paris, France

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