1. Identification of a founder mutation in KRT14 associated with Naegeli–Franceschetti–Jadassohn syndrome. (1st October 2020) Authors: Ralser, D.J.; Kumar, S.; Borisov, O.; Sarig, O.; Richard, G.; Wolf, S.; Krawitz, P.M.; Sprecher, E.; Kreiß, M.; Betz, R.C. Journal: British journal of dermatology Issue: Volume 183:Number 4(2020) Page Start: 756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification of a founder mutation in KRT14 associated with Naegeli–Franceschetti–Jadassohn syndrome. (26th May 2020) Authors: Ralser, D.J.; Kumar, S.; Borisov, O.; Sarig, O.; Richard, G.; Wolf, S.; Krawitz, P.M.; Sprecher, E.; Kreiß, M.; Betz, R.C. Journal: British journal of dermatology Issue: Volume 183:Number 4(2020) Page Start: 756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Whole‐exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. (5th June 2013) Authors: Haghighi, A.; Nikuei, P.; Haghighi‐Kakhki, H.; Saleh‐Gohari, N.; Baghestani, S.; Krawitz, P.M.; Hecht, J.; Mundlos, S. Journal: British journal of dermatology Issue: Volume 168:Number 6(2013:Jun.) Page Start: 1353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗