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South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|July 4, 2012
Confirmation of the recurrent ACVR1 617G>A mutation in South Africans with fibrodysplasia ossificans progressivaCollet Dandara, Chris Scott, Mike Urban, et al.Birth Defects Research. Part A, Clinical and Molecular Teratology|March 18, 2015
Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactylyMagdalena Badura-Stronka, Dariusz Mróz, Peter Beighton, et al.European Journal of Medical Genetics|July 9, 2017
SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebraeTadeusz Bieganski, Peter Beighton, Maciej Lukaszewski, et al.South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|October 3, 2015
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasiaChristopher Mark Watson, Laura A Crinnion, Lindsay Gleghorn, et al.South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|May 12, 2017
Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10Alvera Vorster, Peter Beighton, Manogari Chetty, et al.The Journal of Clinical Endocrinology and Metabolism|September 29, 2005
Bone mineral density in sclerosteosis; affected individuals and gene carriersJessica C Gardner, Rutger L van Bezooijen, Benjamin Mervis, et al.American Journal of Medical Genetics|July 13, 2002
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch populationKaren Staehling-Hampton, Sean Proll, Bryan W Paeper, et al.Human Mutation|August 23, 2020
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2BLisa Roberts, Stephanie Julius, Shrinav Dawlat, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 15, 2010
Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndromeBrian P Kelley, Fransiska Malfait, Luisa Bonafe, et al.Pageof 4