![Structural and functional differences in phox2b frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome]()
Structural and functional differences in phox2b frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndromeDi Lascio, Simona; Benfante, Roberta; Di Zanni, Eleonora; Cardani, Silvia; Adamo, Annalisa; Fornasari, Diego; Ceccherini, Isabella; Bachetti, Tiziana · Human Mutation · 2017