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A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report by Maria Cristina Artesani, Sara Santarsiero, Emanuela Sitzia, Francesca Romana Lepri, Monia Magliozzi, Fabio Majo, Nicola Ullmann, Alessandra Stracuzzi, Antonio Novelli, Giovanni Cristalli, Alessandro Fiocchi
Published 2024Connect to this object online.
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Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review by Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia
Published 2020Connect to this object online.
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