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Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.
Lugtenberg, Dorien; de Brouwer, Arjan P M; Oudakker, Astrid R; Pfundt, Rolph; Hamel, Ben C J; van Bokhoven, Hans; Bongers, Ernie M H F.
Affiliation
  • Lugtenberg D; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Am J Med Genet A ; 149A(4): 760-6, 2009 Feb 15.
Article in En | MEDLINE | ID: mdl-19291773
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Nuclear Proteins / DNA Helicases / Gene Duplication / Chromosomes, Human, X / Mental Retardation, X-Linked / Aneuploidy Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Netherlands Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Nuclear Proteins / DNA Helicases / Gene Duplication / Chromosomes, Human, X / Mental Retardation, X-Linked / Aneuploidy Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: Netherlands Country of publication: United States