Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

M Niceta, K Margiotti, M C Digilio, V Guida, A Bruselles, S Pizzi, A Ferraris, L Memo, N Laforgia, M L Dentici, F Consoli, I Torrente, V L Ruiz-Perez, B Dallapiccola, B Marino, A De Luca, M Tartaglia

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Medicine & Life Sciences