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Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Christians, Anne; Kesdiren, Esra; Hennies, Imke; Hofmann, Alejandro; Trowe, Mark-Oliver; Brand, Frank; Martens, Helge; Gjerstad, Ann Christin; Gucev, Zoran; Zirngibl, Matthias; Geffers, Robert; Seeman, Tomás; Billing, Heiko; Bjerre, Anna; Tasic, Velibor; Kispert, Andreas; Ure, Benno; Haffner, Dieter; Dingemann, Jens; Weber, Ruthild G.
Afiliación
  • Christians A; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
  • Kesdiren E; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
  • Hennies I; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Hofmann A; Department of Pediatric Surgery, Hannover Medical School, Hannover, Germany.
  • Trowe MO; Institute of Molecular Biology, Hannover Medical School, Hannover, Germany.
  • Brand F; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
  • Martens H; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
  • Gjerstad AC; Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Gucev Z; Pediatric Nephrology, University Children's Hospital, Skopje, North Macedonia.
  • Zirngibl M; Pediatric Nephrology, University Children's Hospital, Tübingen, Germany.
  • Geffers R; Genome Analytics Research Group, Helmholtz Centre for Infection Research, Brunswick, Germany.
  • Seeman T; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic.
  • Billing H; Pediatric Nephrology, University Children's Hospital, Tübingen, Germany.
  • Bjerre A; Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.
  • Tasic V; Pediatric Nephrology, University Children's Hospital, Skopje, North Macedonia.
  • Kispert A; Institute of Molecular Biology, Hannover Medical School, Hannover, Germany.
  • Ure B; Department of Pediatric Surgery, Hannover Medical School, Hannover, Germany.
  • Haffner D; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.
  • Dingemann J; Department of Pediatric Surgery, Hannover Medical School, Hannover, Germany.
  • Weber RG; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany. weber.ruthild@mh-hannover.de.
Hum Genet ; 142(1): 73-88, 2023 Jan.
Article en En | MEDLINE | ID: mdl-36066768
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Sistema Urinario / Anomalías Urogenitales Límite: Animals / Humans Idioma: En Revista: Hum Genet Año: 2023 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: Sistema Urinario / Anomalías Urogenitales Límite: Animals / Humans Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Alemania