1. 4.7 Mb deletion encompassing TGFB2 associated with features of Loeys–Dietz syndrome and osteoporosis in adulthood. Issue 8 (25th May 2017) Authors: Gaspar, Harald; Lutz, Bernd; Reicherter, Kerstin; Lühl, Simon; Taurman, Rita; Gabriel, Heinz; Brenner, Rolf E.; Borck, Guntram Journal: American journal of medical genetics Issue: Volume 173:Issue 8(2017) Page Start: 2289 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Epidermolytic ichthyosis due to a de novo missense mutation c.1307T> C; p.Leu436Pro in KRT10. (6th December 2018) Authors: Kuske, Marvin; Berndt, Katja; Meinel, Giada; Abraham, Susanne; Oji, Vinzenz; Reicherter, Kerstin; Hörtnagel, Konstanze; Beissert, Stefan; Bauer, Andrea Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 17:Number 1(2019) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Epidermolytische Ichthyose mit Nachweis einer De‐novo‐Missense‐Mutation c.1307T>C; p.Leu436Pro in KRT10. (7th January 2019) Authors: Kuske, Marvin; Berndt, Katja; Meinel, Giada; Abraham, Susanne; Oji, Vinzenz; Reicherter, Kerstin; Hörtnagel, Konstanze; Beissert, Stefan; Bauer, Andrea Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 17:Number 1(2019) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗