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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.
Makrythanasis, P; Moix, I; Gimelli, S; Fluss, J; Aliferis, K; Antonarakis, S E; Morris, M A; Béna, F; Bottani, A.
Affiliation
  • Makrythanasis P; Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
Clin Genet ; 78(2): 175-80, 2010 Aug.
Article in En | MEDLINE | ID: mdl-20236124
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Aberrations / Facies / Gene Duplication / Methyl-CpG-Binding Protein 2 / Intellectual Disability Type of study: Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Newborn / Pregnancy Language: En Journal: Clin Genet Year: 2010 Type: Article Affiliation country: Switzerland
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosome Aberrations / Facies / Gene Duplication / Methyl-CpG-Binding Protein 2 / Intellectual Disability Type of study: Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Infant / Newborn / Pregnancy Language: En Journal: Clin Genet Year: 2010 Type: Article Affiliation country: Switzerland