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Special Issue "Genetics and Genomics of Skeletal Disorders"
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (20 August 2022) | Viewed by 15382
Special Issue Editors
Interests: skeletal disorders; rare diseases; NGS; biobanks; disease registry; clinical trials
Interests: rare diseases; skeletal disorders; genetics; pediatrics; neonatology; disease registry; clinical research
Interests: rare diseases; skeletal disorders; genetics; NGS; biomarkers; disease registry; biobanking
Special Issue Information
We would like to invite you to participate in this Special Issue, “Genetics and Genomics of Skeletal Disorders”.
The identification of the mechanisms underlying the pathophysiology and therapies of skeletal disorders continues to be an area of significant research. More than 460 different disorders are included under the definition of skeletal disorders, divided in 42 distinct groups according to their phenotype and genotype. Furthermore, these entities present a high level of clinical and genetic heterogeneity; in many cases, mutations in a single gene may lead to a broad variability in clinical expression intra- and extra-familiarly. Over the past two decades, advances in genetic and genomic technologies have strengthened the field of skeletal disorders, increasing the molecular knowledge and discovering the genetic defects underlying many of these diseases. There are still many challenges regarding disease etiologies, pathways, natural history and possible new targets for future therapies; thus, research is highly needed. We welcome original research articles, case reports, reviews and mini-review articles addressing the following aims in skeletal disorders. We also welcome papers from ERN-BOND focusing on rare skeletal diseases.
Dr. Luca Sangiorgi
Dr. Evelise Brizola
Dr. Elena Pedrini
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2400 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- gene discovery
- mechanisms of the diseases
- genetic studies of skeletal development
- natural history
- next-generation sequencing
- development of new treatments or repurposing of drugs
- rare skeletal disease