Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene,...

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書誌詳細
出版年:Orphanet J Rare Dis
主要な著者: Mercier, Sandra, Küry, Sébastien, Salort-Campana, Emmanuelle, Magot, Armelle, Agbim, Uchenna, Besnard, Thomas, Bodak, Nathalie, Bou-Hanna, Chantal, Bréhéret, Flora, Brunelle, Perrine, Caillon, Florence, Chabrol, Brigitte, Cormier-Daire, Valérie, David, Albert, Eymard, Bruno, Faivre, Laurence, Figarella-Branger, Dominique, Fleurence, Emmanuelle, Ganapathi, Mythily, Gherardi, Romain, Goldenberg, Alice, Hamel, Antoine, Igual, Jeanine, Irvine, Alan D., Israël-Biet, Dominique, Kannengiesser, Caroline, Laboisse, Christian, Le Caignec, Cédric, Mahé, Jean-Yves, Mallet, Stéphanie, MacGowan, Stuart, McAleer, Maeve A., McLean, Irwin, Méni, Cécile, Munnich, Arnold, Mussini, Jean-Marie, Nagy, Peter L., Odel, Jeffrey, O’Regan, Grainne M., Péréon, Yann, Perrier, Julie, Piard, Juliette, Puzenat, Eve, Sampson, Jacinda B., Smith, Frances, Soufir, Nadem, Tanji, Kurenai, Thauvin, Christel, Ulane, Christina, Watson, Rosemarie M., Khumalo, Nonhlanhla P., Mayosi, Bongani M., Barbarot, Sébastien, Bézieau, Stéphane
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2015
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4608180/
https://ncbi.nlm.nih.gov/pubmed/26471370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0352-4
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