X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

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Hu, H; Haas, SA; Chelly, J; Van Esch, H; Raynaud, M; De Brouwer, APM; Weinert, S; Froyen, G; Frints, SGM; Laumonnier, F; Zemojtel, T; Love, MI; Richard, H; Emde, A-K; Bienek, M; Jensen, C; Hambrock, M; Fischer, U; Langnick, C; Feldkamp, M; Wissink-Lindhout, W; Lebrun, N; Castelnau, L; Rucci, J; Montjean, R; Dorseuil, O; Billuart, P; Stuhlmann, T; Shaw, M; Corbett, MA; ... view all 84 authors
(2015)
  • Publisher: Nature Publishing Group
  • Journal: volume 21,issue 1,pages133-48issn: 1359-4184, eissn: 1476-5578
  • Related identifiers: doi: 10.1038/mp.2014.193, pmc: PMC5414091
  • Subject: 17 Psychology And Cognitive Sciences | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | LYSOSOMAL STORAGE DISEASE | MARTIN-PROBST SYNDROME | Biochemistry & Molecular Biology | 06 Biological Sciences | Psychiatry | Original Article | Cardiovascular and Metabolic Diseases | Science & Technology | CHLORIDE CHANNEL | SPINE MORPHOGENESIS | Technology Platforms | 11 Medical And Health Sciences | DE-NOVO MUTATIONS | AUTISM SPECTRUM DISORDERS | HOMEODOMAIN TRANSCRIPTION FACTORS | NEURITE OUTGROWTH | Function and Dysfunction of the Nervous System | LINKED MENTAL-RETARDATION | RIBOSOME BIOGENESIS

<p>X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved su... View more
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