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Akademický článek
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Autor:
Cecilia Ghisleni, Barbara Parma, Paola Cianci, Anita De Paoli, Elisabetta Pangallo, Teresa Agovino, Anna Cereda, Maria Francesca Bedeschi, Roberta Villa, Chiara Fossati, Piergiorgio Modena, Carolina Giudici, Carla Morando, Luigi Memo, Roberta Onesimo, Giuseppe Zampino, Silvia Salvatore, Massimo Agosti, Angelo Selicorni
Williams-Beuren syndrome is considered to be at increased risk for celiac disease, as for recent literature data and celiac disease guidelines, despite pathogenic mechanisms are still unclear. Our study analyzed the prevalence of autoimmune disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7db61470304eccb4097c3cf5aebf8ac0
https://hdl.handle.net/11383/2150514
https://hdl.handle.net/11383/2150514
Autor:
Filippo Favuzza, Chiara Vimercati, Paola Cianci, Anita De Paoli, Raffaella Picchi, Alex Moretti, Donatella Milani, Angelo Selicorni, Elisabetta Pangallo, Massimo Agosti
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(2)
Williams–Beuren syndrome (WBS) is caused by an haploinsufficiency of the 7q11.2 region which involves the elastin gene (ELN). A deficiency of elastin is a known pathophysiological mechanism of emphysema/chronic obstructive pulmonary disease (COPD).
Autor:
Massimo Agosti, Roberto Panceri, Silvia Maitz, Chiara Fossati, Angelo Selicorni, Milena Mariani, Elisabetta Pangallo, Barbara Parma, Paola Cianci, Anita De Paoli
Celiac disease (CD) screening in patients with Williams-Beuren Syndrome (WBS) is suggested, although data described in literature are discordant regarding CD prevalence in WBS. We retrospectively collected data from 101 WBS Italian patients [mean age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38e1925f894217b50623b1d732a8cf2a
http://hdl.handle.net/11383/2095948
http://hdl.handle.net/11383/2095948