Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.

Vivante, Asaf; Kleppa, Marc-Jens; Schulz, Julian; Kohl, Stefan; Sharma, Amita; Chen, Jing; Shril, Shirlee; Hwang, Daw-Yang; Weiss, Anna-Carina; Kaminski, Michael M; Shukrun, Rachel; Kemper, Markus J; Lehnhardt, Anja; Beetz, Rolf; Sanna-Cherchi, Simone; Verbitsky, Miguel; Gharavi, Ali G; Stuart, Helen M; Feather, Sally A; Goodship, Judith A; Goodship, Timothy H J; Woolf, Adrian S; Westra, Sjirk J; Doody, Daniel P; Bauer, Stuart B; Lee, Richard S; Adam, Rosalyn M; Lu, Weining; Reutter, Heiko M; Kehinde, Elijah O; Mancini, Erika J; Lifton, Richard P; Tasic, Velibor; Lienkamp, Soeren S; Jüppner, Harald; Kispert, Andreas; Hildebrandt, Friedhelm.
Am J Hum Genet; 97(2): 291-301, 2015 Aug 06.
Artigo em Inglês | MEDLINE | ID: mdl-26235987