@article {Pagnamentajmedgenet-2021-108027, author = {Alistair T Pagnamenta and Francisca Diaz-Gonzalez and Benito Banos-Pinero and Matteo P Ferla and Mehran B Toosi and Alistair D Calder and Ehsan G Karimiani and Mohammad Doosti and Andrew Wainwright and Paul Wordsworth and Kathryn Bailey and Katarina Ejesk{\"a}r and Tracy Lester and Reza Maroofian and Karen E Heath and Homa Tajsharghi and Deborah Shears and Jenny C Taylor}, editor = {, and , and Ambrose, John C and Arumugam, Prabhu and Bevers, Roel and Bleda, Marta and Boardman-Pretty, Freya and Boustred, Christopher R and Brittain, Helen and Caulfield, Mark J and Chan, Georgia C and Elgar, Greg and Fowler, Tom and Giess, Adam and Hamblin, Angela and Henderson, Shirley and Hubbard, Tim J P and Jackson, Rob and Jones, Louise J and Kasperaviciute, Dalia and Kayikci, Melis and Kousathanas, Athanasios and Lahnstein, Lea and Leigh, Sarah E A and Leong, Ivonne U S and Lopez, Javier F and Maleady-Crowe, Fiona and McEntagart, Meriel and Minneci, Federico and Moutsianas, Loukas and Mueller, Michael and Murugaesu, Nirupa and Need, Anna C and O{\textquoteright}Donovan, Peter and Odhams, Chris A and Patch, Christine and Pereira, Mariana Buongermino and Perez-Gil, Daniel and Pullinger, John and Rahim, Tahrima and Rendon, Augusto and Rogers, Tim and Savage, Kevin and Sawant, Kushmita and Scott, Richard H and Siddiq, Afshan and Sieghart, Alexander and Smith, Samuel C and Sosinsky, Alona and Stuckey, Alexander and Tanguy, M{\'e}lanie and Taylor Tavares, Ana Lisa and Thomas, Ellen R A and Thompson, Simon R and Tucci, Arianna and Welland, Matthew J and Williams, Eleanor and Witkowska, Katarzyna and Wood, Suzanne M}, title = {Variable skeletal phenotypes associated with biallelic variants in PRKG2}, elocation-id = {jmedgenet-2021-108027}, year = {2021}, doi = {10.1136/jmedgenet-2021-108027}, publisher = {BMJ Publishing Group Ltd}, issn = {0022-2593}, URL = {https://jmg.bmj.com/content/early/2021/11/14/jmedgenet-2021-108027}, eprint = {https://jmg.bmj.com/content/early/2021/11/14/jmedgenet-2021-108027.full.pdf}, journal = {Journal of Medical Genetics} }