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Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Piras, Roberta; Chiappe, Francesca; Torraca, Ilaria La; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel-Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold-Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Cigdem Seher; Kiliç, Esra; Boduroglu, Koray; Kurtoglu, Selim; Manzur, Adnan Y; Onal, Eray Esra; Paderi, Enrica; Roche, Carmen Herrero; Tümer, Leyla; Unal, Sezin; Utine, Gülen Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank.
Affiliation
  • Piras R; Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy; Department of Public Health and Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy.
Hum Mutat ; 35(4): 424-33, 2014 Apr.
Article in En | MEDLINE | ID: mdl-24488861
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trismus / Hand Deformities, Congenital / Receptors, Cytokine / Death, Sudden / Fever / Mutation Type of study: Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Trismus / Hand Deformities, Congenital / Receptors, Cytokine / Death, Sudden / Fever / Mutation Type of study: Risk_factors_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2014 Type: Article Affiliation country: Italy