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Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.
Haag, Natja; Tan, Ene-Choo; Begemann, Matthias; Buschmann, Lars; Kraft, Florian; Holschbach, Petra; Lai, Angeline H M; Brett, Maggie; Mochida, Ganeshwaran H; DiTroia, Stephanie; Pais, Lynn; Neil, Jennifer E; Al-Saffar, Muna; Bastaki, Laila; Walsh, Christopher A; Kurth, Ingo; Knopp, Cordula.
Afiliación
  • Haag N; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Tan EC; KK Research Centre/Genetics Service, KK Women's & Children's Hospital, Singapore, Singapore.
  • Begemann M; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Buschmann L; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Kraft F; Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Holschbach P; Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  • Lai AHM; KK Research Centre/Genetics Service, KK Women's & Children's Hospital, Singapore, Singapore.
  • Brett M; KK Research Centre/Genetics Service, KK Women's & Children's Hospital, Singapore, Singapore.
  • Mochida GH; Division of Genetics and Genomics, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
  • DiTroia S; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Pais L; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Neil JE; Division of Genetics and Genomics, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
  • Al-Saffar M; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.
  • Bastaki L; Division of Genetics and Genomics, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
  • Walsh CA; Department of Paediatrics, College of Medical and Health Sciences, United Arab Emirates University, Al Ain, UAE.
  • Kurth I; Kuwait Medical Genetics Centre, Maternity Hospital, Shuwaikh, Kuwait.
  • Knopp C; Division of Genetics and Genomics, Boston Children's Hospital, and Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
Eur J Hum Genet ; 29(11): 1663-1668, 2021 11.
Article en En | MEDLINE | ID: mdl-34413497
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Discapacidades del Desarrollo / Proteínas Proto-Oncogénicas / Mutación con Pérdida de Función / Proteínas de la Membrana / Discapacidad Intelectual / Microcefalia Tipo de estudio: Risk_factors_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Discapacidades del Desarrollo / Proteínas Proto-Oncogénicas / Mutación con Pérdida de Función / Proteínas de la Membrana / Discapacidad Intelectual / Microcefalia Tipo de estudio: Risk_factors_studies Límite: Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Alemania