1. An N‐terminal heterozygous missense CASK mutation is associated with microcephaly and bilateral retinal dystrophy plus optic nerve atrophy. Issue 1 (14th December 2018) Authors: LaConte, Leslie E. W.; Chavan, Vrushali; DeLuca, Stephanie; Rubin, Karol; Malc, Jessica; Berry, Susan; Gail Summers, C.; Mukherjee, Konark Journal: American journal of medical genetics Issue: Volume 179:Issue 1(2019) Page Start: 94 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image, Volume 179A, Number 1, January 2019. Issue 1 (25th January 2019) Authors: LaConte, Leslie E. W.; Chavan, Vrushali; DeLuca, Stephanie; Rubin, Karol; Malc, Jessica; Berry, Susan; Gail Summers, C.; Mukherjee, Konark Journal: American journal of medical genetics Issue: Volume 179:Issue 1(2019) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗