Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

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Title: Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
Authors: Lesca G; Service de Génétique and Centre de Référence des Anomalies du Développement, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS, UMR5292, Lyon Neuroscience Research Center, TIGER Team, University Claude Bernard Lyon 1, Université de Lyon, Lyon, France., Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Dec; Vol. 161A (12), pp. 3063-71. Date of Electronic Publication: 2013 Aug 16.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1552-4833
DOI:10.1002/ajmg.a.36162