Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Rosato, Simonetta; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P.; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S.; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W.; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Te Valera, Elvis rci; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia

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Chiara Baldo
Ivanovski et al., 2018

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Elsevier, Genetics in Medicine, 9(20), p. 965-975, 2018

DOI: 10.1038/gim.2017.221

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@article{Ivanovski2018,
  author = {Ivanovski, Ivan and Djuric, Olivera and Caraffi, Stefano Giuseppe and Santodirocco, Daniela and Pollazzon, Marzia and Rosato, Simonetta and Cordelli, Duccio Maria and Abdalla, Ebtesam and Accorsi, Patrizia and Adam, Margaret P. and Ajmone, Paola Francesca and Badura-Stronka, Magdalena and Baldo, Chiara and Baldi, Maddalena and Bayat, Allan and Bigoni, Stefania and Bonvicini, Federico and Breckpot, Jeroen and Callewaert, Bert and Cocchi, Guido and Cuturilo, Goran and De Brasi, Daniele and Devriendt, Koenraad and Dinulos, Mary Beth and Hjortshøj, Tina Duelund and Epifanio, Roberta and Faravelli, Francesca and Fiumara, Agata and Formisano, Debora and Giordano, Lucio and Grasso, Marina and Grønborg, Sabine and Iodice, Alessandro and Iughetti, Lorenzo and Kuburovic, Vladimir and Kutkowska-Kazmierczak, Anna and Lacombe, Didier and Lo Rizzo, Caterina and Luchetti, Anna and Malbora, Baris and Mammi, Isabella and Mari, Francesca and Montorsi, Giulia and Moutton, Sebastien and Møller, Rikke S. and Muschke, Petra and Nielsen, Jens Erik Klint and Obersztyn, Ewa and Pantaleoni, Chiara and Pellicciari, Alessandro and Pisanti, Maria Antonietta and Prpic, Igor and Poch-Olive, Maria Luisa and Raviglione, Federico and Renieri, Alessandra and Ricci, Emilia and Rivieri, Francesca and Santen, Gijs W. and Savasta, Salvatore and Scarano, Gioacchino and Schanze, Ina and Selicorni, Angelo and Silengo, Margherita and Smigiel, Robert and Spaccini, Luigina and Sorge, Giovanni and Szczaluba, Krzysztof and Tarani, Luigi and Tone, Luis Gonzaga and Toutain, Annick and Trimouille, Aurelien and Te Valera, Elvis rci and Valera, Elvis Terci and Vergano, Samantha Schrier and Zanotta, Nicoletta and Zenker, Martin and Conidi, Andrea and Zollino, Marcella and Rauch, Anita and Zweier, Christiane and Garavelli, Livia},
  doi = {10.1038/gim.2017.221},
  journal = {Genetics in Medicine},
  month = {jan},
  pages = {965-975},
  title = {Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care},
  url = {http://www.nature.com/articles/gim2017221.pdf},
  volume = {20},
  year = {2018}
}

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Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Journal article published in 2018 by Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P. Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo