Mol Genet Genomic Med 2020 Jan 15
Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis.
Razmara E, Azimi H, Bitaraf A, Daneshmand MA, Galehdari M, Dokhanchi M, Esmaeilzadeh-Gharehdaghi E, Garshasbi M
Whole-exome sequencing (WES) has emerged as a successful diagnostic tool in molecular genetics laboratories worldwide. In this study, we aimed to find ...
Read More
Source: PubMed
Bone 2019 Dec 30
Genetic testing is useful in adults with limited phenotypes of genetic skeletal conditions.
Cottard M, Vignot E, Fontanges E, Merle B, Collet C, Chapurlat R
We show the value of genetic screening in 3 adults with limited phenotypes of three bone sclerosing genetic disease (GD): osteopetrosis (OPT), Camurat ...
Read More
Source: PubMed
Ear Nose Throat J
Pycnodysostosis in an Adult: A Case Report and Review of the Literature.
Gray ML, Su A, Cruciata G, Som PM
Read More
Source: PubMed
