G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome

  • Am J Med Genet A. 2005 Jul 30;136(3):282-4. doi: 10.1002/ajmg.a.30822.
Fabiana Alexandrino ,  Edi Lúcia Sartorato ,  Antonia Paula Marques-de-Faria ,  Carlos Eduardo Steiner