1. Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Issue 8 (19th May 2016) Authors: Knaus, Alexej; Awaya, Tomonari; Helbig, Ingo; Afawi, Zaid; Pendziwiat, Manuela; Abu‐Rachma, Jubran; Thompson, Miles D.; Cole, David E.; Skinner, Steve; Annese, Fran; Canham, Natalie; Schweiger, Michal R.; Robinson, Peter N.; Mundlos, Stefan; Kinoshita, Taroh; Munnich, Arnold; Murakami, Yoshiko; H... Journal: Human mutation Issue: Volume 37:Issue 8(2016) Page Start: 737 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗