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– Hu H, Haas SA, Chelly J et al: O sequenciamento do X-exome de 405 fam\u00edlias n\u00e3o resolvidas identifica sete novos genes de defici\u00eancia intelectual. Mol Psychiatry 2015. <\/p>\n
– Veeramah KR, Johnstone L, Karafet TM et al: O sequenciamento do exoma revela novas muta\u00e7\u00f5es causais em crian\u00e7as com encefalopatias epil\u00e9pticas. Epilepsia 2013; 54: 1270-1281. <\/p>\n
– 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. <\/p>\n
– Raynaud M, Gendrot C, Dessay B et al: Retardo mental ligado ao X com hipotonia neonatal em uma fam\u00edlia francesa (MRX15): atribui\u00e7\u00e3o do gene a Xp11.22-Xp21.1. Am J Med Genet 1996; 64: 97-106. <\/p>\n
– Yang Y, Muzny DM, Reid JG et al: Clinical whole-exome sequencing for the diagnosis of mendelian disorders (Sequenciamento cl\u00ednico de todo o exoma para o diagn\u00f3stico de dist\u00farbios mendelianos). N Engl J Med 2013; 369: 1502-1511. <\/p>\n
– Jentsch TJ: Descoberta das prote\u00ednas de transporte CLC: clonagem, estrutura, fun\u00e7\u00e3o e fisiopatologia. J Physiol 2015; 593:4091-4109. <\/p>\n
– St\u00f6lting G, Fischer M, Fahlke C: Fun\u00e7\u00e3o e disfun\u00e7\u00e3o do canal CLC na sa\u00fade e na doen\u00e7a. Front Physiol 2014; 5: 378. <\/p>\n
– Palmer EE, Stuhlmann T, Weinert S et al: Muta\u00e7\u00f5es herdadas e de novo no gene ligado ao X CLCN4 est\u00e3o associadas \u00e0 defici\u00eancia intelectual sindr\u00f4mica e a dist\u00farbios comportamentais e convulsivos em homens e mulheres. Mol Psychiatry 2016 doi: 10.1038\/mp.2016.135. <\/p>\n
– Palmer, E.E., Pusch, M., Picollo, A. et al. Estudos funcionais e cl\u00ednicos revelam a complexidade fisiopatol\u00f3gica da condi\u00e7\u00e3o de neurodesenvolvimento relacionada ao CLCN4. Mol Psychiatry 28, 668-697 (2023). https:\/\/doi.org\/10.1038\/s41380-022-01852-9<\/p>\n
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