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Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.

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Title: Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
Authors: 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.
Source: Human genetics [Hum Genet] 2023 Jan; Vol. 142 (1), pp. 73-88. Date of Electronic Publication: 2022 Sep 06.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.
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  Data: <searchLink fieldCode="AU" term="%22Christians+A%22">Christians A</searchLink>; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Kesdiren+E%22">Kesdiren E</searchLink>; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Hennies+I%22">Hennies I</searchLink>; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Hofmann+A%22">Hofmann A</searchLink>; Department of Pediatric Surgery, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Trowe+MO%22">Trowe MO</searchLink>; Institute of Molecular Biology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Brand+F%22">Brand F</searchLink>; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Martens+H%22">Martens H</searchLink>; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Gjerstad+AC%22">Gjerstad AC</searchLink>; Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Gucev+Z%22">Gucev Z</searchLink>; Pediatric Nephrology, University Children's Hospital, Skopje, North Macedonia.<br /><searchLink fieldCode="AU" term="%22Zirngibl+M%22">Zirngibl M</searchLink>; Pediatric Nephrology, University Children's Hospital, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Geffers+R%22">Geffers R</searchLink>; Genome Analytics Research Group, Helmholtz Centre for Infection Research, Brunswick, Germany.<br /><searchLink fieldCode="AU" term="%22Seeman+T%22">Seeman T</searchLink>; Department of Pediatrics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Billing+H%22">Billing H</searchLink>; Pediatric Nephrology, University Children's Hospital, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Bjerre+A%22">Bjerre A</searchLink>; Division of Paediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Tasic+V%22">Tasic V</searchLink>; Pediatric Nephrology, University Children's Hospital, Skopje, North Macedonia.<br /><searchLink fieldCode="AU" term="%22Kispert+A%22">Kispert A</searchLink>; Institute of Molecular Biology, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Ure+B%22">Ure B</searchLink>; Department of Pediatric Surgery, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Haffner+D%22">Haffner D</searchLink>; Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Dingemann+J%22">Dingemann J</searchLink>; Department of Pediatric Surgery, Hannover Medical School, Hannover, Germany.<br /><searchLink fieldCode="AU" term="%22Weber+RG%22">Weber RG</searchLink>; Department of Human Genetics OE 6300, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany. weber.ruthild@mh-hannover.de.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2023 Jan; Vol. 142 (1), pp. 73-88. <i>Date of Electronic Publication: </i>2022 Sep 06.
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