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, Tomas; Billing, Heiko; Bjerre, Anna; Tasic, Velibor; Kispert, Andreas; Ure, Benno; Haffner, Dieter; Dingemann, Jens; Weber, Ruthild G.

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

Autor(en):

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

Erschienen in:

Human Genetics (2023), Bd. 142, H. 1, S. 73-88

Verlagsangabe:

Springer

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1007/s00439-022-02481-6

ISSN:

0340-6717