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ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
Cossée, Mireille; Faivre, Laurence; Philippe, Christophe; Hichri, Heifa; de Saint-Martin, Anne; Laugel, Vincent; Bahi-Buisson, Nadia; Lemaitre, Jean-François; Leheup, Bruno; Delobel, Bruno; Demeer, Bénédicte; Poirier, Karine; Biancalana, Valérie; Pinoit, Jean-Michel; Julia, Sophie; Chelly, Jamel; Devys, Didier; Mandel, Jean-Louis.
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  • Cossée M; Hôpitaux Universitaires de Strasbourg, France. mireille.cossee@cch.aphp.fr
Am J Med Genet A ; 155A(1): 98-105, 2011 Jan.
Article in En | MEDLINE | ID: mdl-21204215
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Full text: 1 Database: MEDLINE Main subject: Peptides / Phenotype / Transcription Factors / Homeodomain Proteins / DNA Repeat Expansion / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Male Language: En Year: 2011 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Peptides / Phenotype / Transcription Factors / Homeodomain Proteins / DNA Repeat Expansion / Intellectual Disability Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Male Language: En Year: 2011 Type: Article