Lectura adicional

• Hu H, Haas SA, Chelly J et al: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry 2015. • Veeramah KR, Johnstone L, Karafet TM et al: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013; 54: 1270-1281. • Claes S, Vogels A, Holvoet M et al: Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3-p22.2 (MRX49) and Xp11.3-p11.21 (MRX50). Am J Med Genet 1997; 73: 474-479. • Raynaud M, Gendrot C, Dessay B et al: X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1. Am J Med Genet 1996; 64: 97-106. • Yang Y, Muzny DM, Reid JG et al: Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013; 369: 1502-1511. • Jentsch TJ: Discovery of CLC transport proteins: cloning, structure, function and pathophysiology. J Physiol 2015; 593:4091-4109. • Stölting G, Fischer M, Fahlke C: CLC channel function and dysfunction in health and disease. Front Physiol 2014; 5: 378. • Palmer EE, Stuhlmann T, Weinert S et al: De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Mol Psychiatry 2016 doi: 10.1038/mp.2016.135.

Ponte en contacto. Participa.

6 + 14 =

Share This