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Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
Tham, Emma; Lindstrand, Anna; Santani, Avni; Malmgren, Helena; Nesbitt, Addie; Dubbs, Holly A; Zackai, Elaine H; Parker, Michael J; Millan, Francisca; Rosenbaum, Kenneth; Wilson, Golder N; Nordgren, Ann.
Afiliación
  • Tham E; Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden. Electronic address: emma.tham@karolinska.se.
  • Lindstrand A; Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.
  • Santani A; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, PA 19104, USA.
  • Malmgren H; Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.
  • Nesbitt A; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Dubbs HA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK.
  • Millan F; GeneDx Laboratory, Gaithersburg, MD 20877, USA.
  • Rosenbaum K; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC 20010, USA.
  • Wilson GN; Department of Pediatrics, Texas Tech University Health Science Center, Lubbock, TX 79106, and Medical City Hospital, Dallas, TX 75230, USA; KinderGenome Pediatric Genetics, Medical City Hospital, Dallas, TX 75230, USA.
  • Nordgren A; Department of Clinical Genetics, Karolinska University Hospital, 171 76 Stockholm, Sweden; Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76 Stockholm, Sweden.
Am J Hum Genet ; 96(3): 507-13, 2015 Mar 05.
Article en En | MEDLINE | ID: mdl-25728777
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Histona Acetiltransferasas / Discapacidad Intelectual Tipo de estudio: Clinical_trials Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Histona Acetiltransferasas / Discapacidad Intelectual Tipo de estudio: Clinical_trials Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Año: 2015 Tipo del documento: Article