Faculty Opinions recommendation of Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

2010 ◽  
Author(s):  
Tim Cundy
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Gene Encoding

scholarly journals Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

2010 ◽  
Vol 86 (4) ◽  
pp. 551-559 ◽  
Author(s):  
Yasemin Alanay ◽  
Hrispima Avaygan ◽  
Natalia Camacho ◽  
G. Eda Utine ◽  
Koray Boduroglu ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Gene Encoding

scholarly journals Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

2010 ◽  
Vol 87 (4) ◽  
pp. 572-573 ◽  
Author(s):  
Yasemin Alanay ◽  
Hrispima Avaygan ◽  
Natalia Camacho ◽  
G. Eda Utine ◽  
Koray Boduroglu ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Gene Encoding

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

scholarly journals High prevalence of theW24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss

2005 ◽  
Vol 137A (3) ◽  
pp. 255-258 ◽  
Author(s):  
Araceli Álvarez ◽  
Ignacio del Castillo ◽  
Manuela Villamar ◽  
Luis A. Aguirre ◽  
Anna González-Neira ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Connexin 26 ◽  
Gene Encoding ◽  
High Prevalence ◽  
Syndromic Hearing Loss

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 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
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