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Nasti S, Pastorino L, Bruno W et al. Five novel germline function-impairing mutations of CYLD in Italian patients with multiple cylindromas. Clin. Genet. 76, 481-485 (2009). •• Discusses different Brooke-Spiegler syndrome case series with novel mutations, clearly enriching our knowledge on clinical and biomolecular features of the syndrome.
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