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Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.
Grønskov, Karen; Diness, Birgitte; Stahlhut, Michelle; Zilmer, Monica; Tümer, Zeynep; Bisgaard, Anne-Marie; Brøndum-Nielsen, Karen.
Afiliação
  • Grønskov K; Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, University of Copenhagen, DK-2600 Glostrup, Denmark; Department of Cellular and Molecular Medicine, University of Copenhagen, DK-2200 Copenhagen, Denmark. Electronic address: Karen.groenskov@regionh.dk.
  • Diness B; Genetic Counseling Clinic, Kennedy Center, Rigshospitalet, University of Copenhagen, DK-2600 Glostrup, Denmark.
  • Stahlhut M; Center for Rett Syndrome, Kennedy Center, Rigshospitalet, University of Copenhagen, DK-2600 Glostrup, Denmark.
  • Zilmer M; Department of Pediatrics, Næstved Hospital, DK-4700 Næstved, Denmark.
  • Tümer Z; Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, University of Copenhagen, DK-2600 Glostrup, Denmark.
  • Bisgaard AM; Center for Rett Syndrome, Kennedy Center, Rigshospitalet, University of Copenhagen, DK-2600 Glostrup, Denmark.
  • Brøndum-Nielsen K; Applied Human Molecular Genetics, Kennedy Center, Rigshospitalet, University of Copenhagen, DK-2600 Glostrup, Denmark.
Eur J Med Genet ; 57(6): 284-7, 2014.
Article em En | MEDLINE | ID: mdl-24727054
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Convulsões / Fatores de Transcrição / Proteínas de Homeodomínio / Deficiência Intelectual Ligada ao Cromossomo X / Mosaicismo Tipo de estudo: Etiology_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ataxia / Convulsões / Fatores de Transcrição / Proteínas de Homeodomínio / Deficiência Intelectual Ligada ao Cromossomo X / Mosaicismo Tipo de estudo: Etiology_studies Limite: Child, preschool / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article