Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

by Magdalena Danyel, Eun Kyung Suk, Vera Raile, Jutta Gellermann, Alexej Knaus, Denise Horn
Published 2019-01-01

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.

by Beata S Lipska-Ziętkiewicz, Jutta Gellermann, Olivia Boyer, Olivier Gribouval, Szymon Ziętkiewicz, Jameela A Kari, Mohamed A Shalaby, Fatih Ozaltin, Jiri Dusek, Anette Melk, Aysun K Bayazit, Laura Massella, Lidia Hyla-Klekot, Sandra Habbig, Astrid Godron, Maria Szczepańska, Beata Bieniaś, Dorota Drożdż, Rasha Odeh, Wioletta Jarmużek, Katarzyna Zachwieja, Agnes Trautmann, Corinne Antignac, Franz Schaefer, PodoNet Consortium
Published 2017-01-01