Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome von Kelley, B. P, Malfait, F, Bonafe, L, Baldridge, D, Homan, E, Symoens, S, Willaert, A, Elcioglu, N, Van Maldergem, Lionel, Verellen-Dumoulin, C, Gillerot, Y, Napierala, D, Krakow, D, Beighton, P, Superti-Furga, A, De Paepe, Alexandra, Lee, B

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Taurodontism in dental genetics von Chetty, Manogari, Roomaney, Imaan A., Beighton, Peter

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Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein von Brunkow, Mary E., Gardner, Jessica C., Van Ness, Jeff, Paeper, Bryan W., Kovacevich, Brian R., Proll, Sean, Skonier, John E., Zhao, L., Sabo, P.J., Fu, Ying-Hui, Alisch, Reid S., Gillett, Lucille, Colbert, Trenton, Tacconi, Paolo, Galas, David, Hamersma, Herman, Beighton, Peter, Mulligan, John T.

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Bone Mineral Density in Sclerosteosis; Affected Individuals and Gene Carriers von Gardner, Jessica C., van Bezooijen, Rutger L., Mervis, Benjamin, Hamdy, Neveen A. T., Löwik, Clemens W. G. M., Hamersma, Herman, Beighton, Peter, Papapoulos, Socrates E.

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Kazimierz S. Kozlowski, 1928 von Beighton, Peter, Vanhoenacker, Filip

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Split-Hand/Split-Foot Malformation Is Caused by Mutations in the p63 Gene on 3q27 von Ianakiev, Peter, Kilpatrick, Michael W., Toudjarska, Iva, Basel, Donald, Beighton, Peter, Tsipouras, Petros

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Kazimierz S. Kozlowski, 1928 von Beighton, Peter, Vanhoenacker, Filip M.M

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The evolution of the nosology of osteogenesis imperfecta von Chetty, Manogari, Roomaney, Imaan Amina, Beighton, Peter

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Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK von Reichenberger, Ernst, Tiziani, Valdenize, Watanabe, Shoji, Park, Lucy, Ueki, Yasuyoshi, Santanna, Carla, Baur, Scott T., Shiang, Rita, Grange, Dorothy K., Beighton, Peter, Gardner, Jessica, Hamersma, Herman, Sellars, Sean, Ramesar, Rajkumar, Lidral, Andrew C., Sommer, Annmarie, Raposo do Amaral, Cassio M., Gorlin, Robert J., Mulliken, John B., Olsen, Bjorn R.

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Warfarin embryopathy: fetal manifestations von Wainwright, Helen, Beighton, Peter

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Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community von Chimusa, Emile R, Beighton, Peter, Kumuthini, Judit, Ramesar, Rajkumar S

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A Mutation in the Variable Repeat Region of the Aggrecan Gene ( AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis von Gleghorn, Lindsay, Ramesar, Rajkumar, Beighton, Peter, Wallis, Gillian

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Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia von Watson, Christopher Mark, Crinnion, Laura A, Gleghorn, Lindsay, Newman, William G, Ramesar, Rajkumar, Beighton, Peter, Wallis, Gillian A

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Bruck syndrome: congenital joint contractures with bone fragility von Mokete, Lipalo, Robertson, Anthony, Viljoen, Denis, Beighton, Peter

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Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation inRRM2B von Roberts, Lisa, Julius, Stephanie, Dawlat, Shrinav, Yildiz, Safiye, Rebello, George, Meldau, Surita, Pillay, Komala, Esterhuizen, Alina, Vorster, Alvera, Benefeld, Gameda, da Rocha, Jorge, Beighton, Peter, Sellars, Sean L., Thandrayen, Kebashni, Pettifor, John M., Ramesar, Raj S.

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The natural history of sclerosteosis von Hamersma, H, Gardner, J, Beighton, P

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Lethal epiphyseal stippling in the foetus and neonate; pathological implications von Wainwright, Helen, Beighton, Peter

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Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B von Roberts, Lisa, Julius, Stephanie, Dawlat, Shrinav, Yildiz, Safiye, Rebello, George, Meldau, Surita, Pillay, Komala, Esterhuizen, Alina, Vorster, Alvera, Benefeld, Gameda, Rocha, Jorge, Beighton, Peter, Sellars, Sean L., Thandrayen, Kebashni, Pettifor, John M., Ramesar, Raj S.

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Fibrodysplasia ossificans progressiva (FOP) in South Africa: dental implications in 5 cases von Roberts, Tina, BChD, MChD, Stephen, Lawrence, BChD, MSc, PhD, Scott, Chris, FCPaed(SA), Urban, M., FRCP(SA), Sudi, Stephen, DDS, Beighton, Peter, OMB, MD, PhD, FRCP

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A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndrome von Spencer, Careni, Fieggen, Karen, Vorster, Anna, Beighton, Peter

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