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Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.
Beneteau, Claire; Landais, Emilie; Doco-Fenzy, Martine; Gavazzi, Cyrille; Philippe, Christophe; Béri-Dexheimer, Mylène; Bonnet, Céline; Vigneron, Jacqueline; Walrafen, Pierre; Motte, Jacques; Leheup, Bruno; Jonveaux, Philippe.
Affiliation
  • Beneteau C; Laboratoire de Ge´ne´tique, EA4368, Nancy-Universite´, CHUNancy, France.
J Med Genet ; 48(9): 635-9, 2011 Sep.
Article in En | MEDLINE | ID: mdl-21617255
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 11 / Chromosome Aberrations / Chromosome Disorders / Dwarfism / Overweight / Keratoconus / Intellectual Disability Limits: Adult / Humans / Male Language: En Journal: J Med Genet Year: 2011 Document type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 11 / Chromosome Aberrations / Chromosome Disorders / Dwarfism / Overweight / Keratoconus / Intellectual Disability Limits: Adult / Humans / Male Language: En Journal: J Med Genet Year: 2011 Document type: Article Affiliation country: France