scholarly journals Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta

2020 ◽  
Vol 11 ◽  
Author(s):  
Shan Li ◽  
Yixuan Cao ◽  
Han Wang ◽  
Lulu Li ◽  
Xiuzhi Ren ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Phenotypic Analysis ◽  
Chinese Cohort

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

2013 ◽  
pp. n/a-n/a ◽  
Author(s):  
Michael Volodarsky ◽  
Barak Markus ◽  
Idan Cohen ◽  
Orna Staretz-Chacham ◽  
Hagit Flusser ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Deletion Mutation

Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta

2016 ◽  
Vol 61 (6) ◽  
pp. 539-545 ◽  
Author(s):  
Fang Lv ◽  
Xiao-jie Xu ◽  
Jian-yi Wang ◽  
Yi Liu ◽  
Asan ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Novel Mutations

Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta

2008 ◽  
Vol 35 (3) ◽  
pp. 181-190 ◽  
Author(s):  
E. Mair Williams ◽  
Alan C. Nicholls ◽  
Sara C. M. Daw ◽  
Nan Mitchell ◽  
L. Stefan Levin ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Irish Family

scholarly journals Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

2016 ◽  
Vol 5 (1) ◽  
pp. 28-39 ◽  
Author(s):  
Jose A. Caparros-Martin ◽  
Mona S. Aglan ◽  
Samia Temtamy ◽  
Ghada A. Otaify ◽  
Maria Valencia ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Molecular Spectrum

scholarly journals Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta

2020 ◽  
Vol 11 ◽  
Author(s):  
Yen-An Tang ◽  
Lin-Yen Wang ◽  
Chiao-May Chang ◽  
I-Wen Lee ◽  
Wen-Hui Tsai ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

2014 ◽  
Vol 5 (6) ◽  
pp. 268-275 ◽  
Author(s):  
Renata Moldenhauer Minillo ◽  
Nara Sobreira ◽  
Maria de Fatima de Faria Soares ◽  
Julie Jurgens ◽  
Hua Ling ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Osteogenesis Imperfecta Type

scholarly journals Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

2018 ◽  
Vol 37 (3) ◽  
pp. 276-279
Author(s):  
Suraj Dhaubhadel ◽  
Bimala Baniya ◽  
Hema Joshi ◽  
Ram Hari Chapagain ◽  
Krishna Prasad Paudel
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Femur Fracture ◽  
Bone Fragility ◽  
Rare Disorder ◽  
Arthrogryposis Multiplex Congenita ◽  
Joint Contractures ◽  
New Born ◽  
Bruck Syndrome

Bruck syndrome is a very rare autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. It is considered as a combination of arthrogryposis multiplex congenita and osteogenesis imperfecta, while some consider it as the autosomal recessive variant of osteogenesis imperfecta. According to the genotype, it has been classified into types 1 and 2. To our knowledge, only about 28 patients of this syndrome have been reported so far worldwide with none been reported from Nepal. Here, we present a patient with generalized osteopenia, bilateral femur fracture and congenital joint contractures of distal extremities.

scholarly journals Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report

2018 ◽  
Vol 19 (1) ◽  
Author(s):  
Fatemeh Maghami ◽  
Seyed Mohammad Bagher Tabei ◽  
Hossein Moravej ◽  
Hassan Dastsooz ◽  
Farzaneh Modarresi ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Splicing Defect
Sign in / Sign up

Export Citation Format

Share Document