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\u2022 Hu H, Haas SA, Chelly J et al: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry 2015. \u2022 Veeramah KR, Johnstone L, Karafet TM et al: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013; 54: 1270-1281. \u2022 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. \u2022 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. \u2022 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. \u2022 Jentsch TJ: Discovery of CLC transport proteins: cloning, structure, function and pathophysiology. J Physiol 2015; 593:4091-4109. \u2022 St\u00f6lting G, Fischer M, Fahlke C: CLC channel function and dysfunction in health and disease. Front Physiol 2014; 5: 378. \u2022 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.<\/p>\n
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Lectura adicional\u2022 Hu H, Haas SA, Chelly J et al: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol Psychiatry 2015. \u2022 Veeramah KR, Johnstone L, Karafet TM et al: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia 2013; 54: 1270-1281. \u2022 Claes S, Vogels A, Holvoet […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"class_list":["post-2079","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2079","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/comments?post=2079"}],"version-history":[{"count":5,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2079\/revisions"}],"predecessor-version":[{"id":3151,"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/pages\/2079\/revisions\/3151"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/es\/wp-json\/wp\/v2\/media?parent=2079"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}