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Journal: Diagnostics, 2021
Volume: 11
Number: 1218
1218
Article: Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants
Authors: by Raffaella Brunetti-Pierri, Marianthi Karali, Francesco Testa, Gerarda Cappuccio, Maria Elena Onore, Francesca Romano, Giuseppe De Rosa, Enrico Tedeschi, Nicola Brunetti-Pierri, Sandro Banfi and Francesca Simonelli
Link: https://www.mdpi.com/2075-4418/11/7/1218

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