An investigation into the genetic basis of autosomal recessive Osteogenesis imperfecta (OI) III in a South African family of mixed ancestry
SA Fernol - 2022 - etd.uwc.ac.za
Osteogenesis Imperfecta (OI) is a rare skeletal dysplasia that is primarily characterized by
bone fragility, recurrent fractures, and bone deformities. Over the years there has been an …
bone fragility, recurrent fractures, and bone deformities. Over the years there has been an …
Autosomal recessive inheritance of osteogenesis imperfecta
F Horan, P Beighton - Clinical Genetics, 1975 - Wiley Online Library
Autosomal recessive inheritance of osteogenesis imperfecta Page 1 Clinical Genetics 1975: 8:
107-111 Autosomal recessive inheritance of osteogenesis imperfecta FRANK HORAN* AND …
107-111 Autosomal recessive inheritance of osteogenesis imperfecta FRANK HORAN* AND …
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa
P Beighton, GA Versfeld - Clinical genetics, 1985 - Wiley Online Library
In a survey of Black patients with osteogenesis imperfecta (OI) attending the Baragwanath
Hospital, Johannesburg, the severe autosomal recessive OI type III was recognized in 21, of …
Hospital, Johannesburg, the severe autosomal recessive OI type III was recognized in 21, of …
Osteogenesis imperfects type III: An ancient mutation in Africa?
D Viljoen, P Beighton, JM Opitz… - American journal of …, 1987 - Wiley Online Library
In a survey of institutions for crippled persons in Zimbabwe, 58 patients with osteogenesis
imperfecta (OI) were identified; 42 had the rare OI Type III. The Shona and Ndebele people …
imperfecta (OI) were identified; 42 had the rare OI Type III. The Shona and Ndebele people …
Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease
Osteogenesis imperfecta (OI) is a heritable disease of bone with low bone mass and bone
fragility. The disease is generally classified into four types based on clinical features and …
fragility. The disease is generally classified into four types based on clinical features and …
Biallelic variants in four genes underlying recessive osteogenesis imperfecta
Osteogenesis imperfecta (OI) is an inherited heterogeneous rare skeletal disorder
characterized by increased bone fragility and low bone mass. The disorder mostly …
characterized by increased bone fragility and low bone mass. The disorder mostly …
Skeletal complications in osteogenesis imperfecta-a review of 153 South African patients
G Beighton, P.,* Spranger, J.** & … - South african medical …, 1983 - journals.co.za
Skeletal complications in osteogenesis imperfecta - a review of 153 South African patients Page
1 SA MEDIESE TYDSKRIF DEEL 64 1 OKTOBER 1983 565 Skeletal complications imperfecta …
1 SA MEDIESE TYDSKRIF DEEL 64 1 OKTOBER 1983 565 Skeletal complications imperfecta …
Perinatal lethal osteogenesis imperfecta
S Moosa - South African Journal of Radiology, 2012 - sajr.org.za
Osteogenesis imperfecta (OI) is a heterogeneous group of genetic bone disorders that are
characterised by decreased bone mass, increased bone fragility and susceptibility to …
characterised by decreased bone mass, increased bone fragility and susceptibility to …
Craniofacial manifestations in osteogenesis imperfecta type III in South Africa
M Chetty, TS Roberts, L Stephen, P Beighton - BDJ open, 2017 - nature.com
Objectives: Osteogenesis imperfecta type III (OMIM 259420) is a severe autosomal
recessive disorder. Affected individuals have multiple fractures, develop limb deformities …
recessive disorder. Affected individuals have multiple fractures, develop limb deformities …
The evolution of the nosology of osteogenesis imperfecta
M Chetty, IA Roomaney, P Beighton - Clinical Genetics, 2021 - Wiley Online Library
Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an
estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although …
estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although …