An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
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N. Brunetti‐Pierri | C. Rivolta | M. Filocamo | M. Cortón | S. Banfi | M. Pinelli | G. Morana | A. Superti-Furga | C. Ayuso | M. Di Rocco | F. Testa | F. Simonelli | Nicola Bedoni | M. Quinodoz | G. Cappuccio | A. Torella | V. Nigro | S. Lualdi | Federica Lanza