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. |
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| 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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| ISSN: | 1432-1203 |
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| DOI: | 10.1007/s00439-022-02481-6 |
