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Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Motta, Marialetizia; Solman, Maja; Bonnard, Adeline A; Kuechler, Alma; Pantaleoni, Francesca; Priolo, Manuela; Chandramouli, Balasubramanian; Coppola, Simona; Pizzi, Simone; Zara, Erika; Ferilli, Marco; Kayserili, Hülya; Onesimo, Roberta; Leoni, Chiara; Brinkmann, Julia; Vial, Yoann; Kamphausen, Susanne B; Thomas-Teinturier, Cécile; Guimier, Anne; Cordeddu, Viviana; Mazzanti, Laura; Zampino, Giuseppe; Chillemi, Giovanni; Zenker, Martin; Cavé, Hélène; den Hertog, Jeroen; Tartaglia, Marco.
Afiliação
  • Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Solman M; Hubrecht Institute-KNAW and University Medical Center Utrecht, 3584 Utrecht, The Netherlands.
  • Bonnard AA; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, 75019 Paris, France.
  • Kuechler A; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, 75010 Paris, France.
  • Pantaleoni F; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45147 Essen, Germany.
  • Priolo M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Chandramouli B; UOSD Genetica Medica, Grandeospedale Metropolitano "Bianchi-Melacrino-Morelli", 89124 Reggio Calabria, Italia.
  • Coppola S; Super Computing Applications and Innovation, CINECA, 40033 Bologna, Italy.
  • Pizzi S; National Centre Rare Diseases, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Zara E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Ferilli M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Kayserili H; Department of Biology and Biotechnology "Charles Darwin", Sapienza University of Rome, 00185 Rome, Italy.
  • Onesimo R; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
  • Leoni C; Genetic Diseases Evaluation Center, Medical Genetics Department, Koç University School of Medicine, Istanbul 34010, Turkey.
  • Brinkmann J; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
  • Vial Y; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
  • Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
  • Thomas-Teinturier C; Département de Génétique, Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, 75019 Paris, France.
  • Guimier A; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, 75010 Paris, France.
  • Cordeddu V; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
  • Mazzanti L; Department of Pediatric Endocrinology, Assistance Publique-Hôpitaux de Paris, Université Paris-Saclay, Hôpital Bicêtre, 94270 Le Kremlin Bicêtre, France.
  • Zampino G; INSERM UMR 1018, Cancer and Radiation Team, CESP, 94800 Villejuif, France.
  • Chillemi G; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies du développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, 75015 Paris, France.
  • Zenker M; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
  • Cavé H; Alma Mater Studiorum, University of Bologna, 40125 Bologna, Italy.
  • den Hertog J; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, IRCCS, 00168 Rome, Italy.
  • Tartaglia M; Department of Woman and Child Health and Public Health, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Hum Mol Genet ; 31(16): 2766-2778, 2022 08 23.
Article em En | MEDLINE | ID: mdl-35348676
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Peptídeos e Proteínas de Sinalização Intracelular / Síndrome dos Cabelos Anágenos Frouxos Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Peptídeos e Proteínas de Sinalização Intracelular / Síndrome dos Cabelos Anágenos Frouxos Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article