Associated Papers
Previously Unreported TMEM38B Variant in Osteogenesis Imperfecta Type XIV: A Case Report and Systematic Review of the Literature.
Zoller T et al.
International Journal of Molecular Sciences, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
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Detection of a Recurrent TMEM38B Gene Deletion Associated with Recessive Osteogenesis Imperfecta.
Ramzan K et al.
Discoveries (craiova, Romania), 2021
A Founder Pathogenic Variant of PPIB Unique to Chinese Population Causes Osteogenesis Imperfecta IX.
Zhu W et al.
Frontiers in Genetics, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Essawi O et al.
Molecular Genetics & Genomic Medicine, 2018
Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta.
Lv F et al.
Journal of Human Genetics, 2016
TRIC-B Mutations Causing Osteogenesis Imperfecta.
Ichimura A et al.
Biological & Pharmaceutical Bulletin, 2016
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.
Marini JC et al.
Current Opinion in Pediatrics, 2014
New genes in bone development: what's new in osteogenesis imperfecta.
Marini JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta.
Volodarsky M et al.
Human Mutation, 2013
Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation.
Shaheen R et al.
Journal of Medical Genetics, 2012
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