Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i>
Alistair T. Pagnamenta, Francisca Díaz, Benito Baños-Piñero, Matteo P. Ferla, Mehran Beiraghi Toosi, Alistair Calder, Ehsan Ghayoor Karimiani, Mohammad Doosti, Andrew Wainwright, B P Wordsworth, Kathryn Bailey, Katarina Ejeskär, Tracy Lester, Reza Maroofian, Karen E. Heath, Homa Tajsharghi, Deborah Shears, Jenny C. Taylor
Abstract
CC BY 4.0 Published Online First: 15 November 2021 Brief communication The Genomics England Research Consortium Correspondence to Dr Deborah Shears; [email protected] Dr Jenny C Taylor; [email protected]
Topics & Concepts
PhenotypeGeneticsBiologyVariable (mathematics)GeneMathematicsMathematical analysisGenomics and Rare DiseasesGenetic Syndromes and ImprintingCancer-related gene regulation