1. A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. Issue 9 (5th June 2016) Authors: Gripp, Karen W.; Aldinger, Kimberly A.; Bennett, James T.; Baker, Laura; Tusi, Jessica; Powell‐Hamilton, Nina; Stabley, Deborah; Sol‐Church, Katia; Timms, Andrew E.; Dobyns, William B. Journal: American journal of medical genetics Issue: Volume 170:Issue 9(2016) Page Start: 2237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Update on the ACTG1‐associated Baraitser–Winter cerebrofrontofacial syndrome. Issue 10 (30th May 2016) Authors: Di Donato, Nataliya; Kuechler, Alma; Vergano, Samantha; Heinritz, Wolfram; Bodurtha, Joann; Merchant, Sabiha R.; Breningstall, Galen; Ladda, Roger; Sell, Susan; Altmüller, Janine; Bögershausen, Nina; Timms, Andrew E.; Hackmann, Karl; Schrock, Evelin; Collins, Sarah; Olds, Carissa; Rump, Andreas; ... Other Names: Hennekam Raoul C.M. guestEditor.; Biesecker Leslie G. guestEditor. Journal: American journal of medical genetics Issue: Volume 170:Issue 10(2016) Page Start: 2644 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗