Variable skeletal phenotypes associated with biallelic variants in PRKG2. Issue 10 (15th November 2021)

• Record Type: Journal Article
• Authors: Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C
• Other Names: author non-byline.; Ambrose John C author non-byline.; Arumugam Prabhu author non-byline.; Bevers Roel author non-byline.; Bleda Marta author non-byline.; Boardman-Pretty Freya author non-byline.; Boustred Christopher R author non-byline.; Brittain Helen author non-byline.; Caulfield Mark J author non-byline.; Chan Georgia C author non-byline.; Elgar Greg author non-byline.; Fowler Tom author non-byline.; Giess Adam author non-byline.; Hamblin Angela author non-byline.; Henderson Shirley author non-byline.; Hubbard Tim J P author non-byline.; Jackson Rob author non-byline.; Jones Louise J author non-byline.; Kasperaviciute Dalia author non-byline.; Kayikci Melis author non-byline.; Kousathanas Athanasios author non-byline.; Lahnstein Lea author non-byline.; Leigh Sarah E A author non-byline.; Leong Ivonne U S author non-byline.; Lopez Javier F author non-byline.; Maleady-Crowe Fiona author non-byline.; McEntagart Meriel author non-byline.; Minneci Federico author non-byline.; Moutsianas Loukas author non-byline.; Mueller Michael author non-byline.; Murugaesu Nirupa author non-byline.; Need Anna C author non-byline.; O'Donovan Peter author non-byline.; Odhams Chris A author non-byline.; Patch Christine author non-byline.; Pereira Mariana Buongermino author non-byline.; Perez-Gil Daniel author non-byline.; Pullinger John author non-byline.; Rahim Tahrima author non-byline.; Rendon Augusto author non-byline.; Rogers Tim author non-byline.; Savage Kevin author non-byline.; Sawant Kushmita author non-byline.; Scott Richard H author non-byline.; Siddiq Afshan author non-byline.; Sieghart Alexander author non-byline.; Smith Samuel C author non-byline.; Sosinsky Alona author non-byline.; Stuckey Alexander author non-byline.; Tanguy Mélanie author non-byline.; Taylor Tavares Ana Lisa author non-byline.; Thomas Ellen R A author non-byline.; Thompson Simon R author non-byline.; Tucci Arianna author non-byline.; Welland Matthew J author non-byline.; Williams Eleanor author non-byline.; Witkowska Katarzyna author non-byline.; Wood Suzanne M author non-byline.;
• Is Part Of: Journal of medical genetics. Volume 59:Issue 10(2022)
• Page Start: 947
• Page End: 950
• Publication Date: 2021-11-15
• Subjects: musculoskeletal diseases -- genomics -- phenotype -- frameshift mutation -- codon -- nonsense; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2021-108027
• Languages: English
• ISSNs: 1468-6244