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

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

Author: 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, Tomas; Billing, Heiko; Bjerre, Anna; Tasic, Velibor; Kispert, Andreas; Ure, Benno; Haffner, Dieter; Dingemann, Jens; Weber, Ruthild G.
Tübinger Autor(en):
Zirngibl, Matthias
Billing, Heiko
Published in: Human Genetics (2023), Bd. 142, H. 1, S. 73-88
Verlagsangabe: Springer
Language: English
Full text: http://dx.doi.org/10.1007/s00439-022-02481-6
ISSN: 0340-6717
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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