A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders

by Pernille A. Gregersen, Victoria McKay, Maie Walsh, Erica Brown, George McGillivray, Ravi Savarirayan
Published 2020-06-01

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

by Anna Byrjalsen, Thomas V O Hansen, Ulrik K Stoltze, Mana M Mehrjouy, Nanna Moeller Barnkob, Lisa L Hjalgrim, René Mathiasen, Charlotte K Lautrup, Pernille A Gregersen, Henrik Hasle, Peder S Wehner, Ruta Tuckuviene, Peter Wad Sackett, Adrian O Laspiur, Maria Rossing, Rasmus L Marvig, Niels Tommerup, Tina Elisabeth Olsen, David Scheie, Ramneek Gupta, Anne-Marie Gerdes, Kjeld Schmiegelow, Karin Wadt
Published 2020-12-01