The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Genetic Disorders of the Skeleton: A Developmental Approach
Open accessAbstract
Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions about possible underlying pathomechanisms. Traditionally, skeletal disorders have been subdivided into dysostoses, defined as malformations of individual bones or groups of bones, and osteochondrodysplasias, defined as developmental disorders of chondro-osseous tissue. In light of the recent advances in molecular genetics, however, many phenotypically similar skeletal diseases comprising the classical categories turned out not to be based on defects in common genes or physiological pathways. In this article, we present a classification based on a combination of molecular pathology and embryology, taking into account the importance of development for the understanding of bone diseases.
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Cites
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Cited by
Nosology and classification of genetic skeletal disorders: 2006 revision
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RhoA/ROCK Signaling Regulates Sox9 Expression and Actin Organization during Chondrogenesis
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Cartilage biology in osteoarthritis—lessons from developmental biology
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Self-citation
Metadata
- Authors
- Kornak, U., & Mundlos, S.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2003-09
- Volume
- 73
- Issue
- 3
- Pages
- 447-474
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W1980778918
- Cited by
- 180
- References
- 11
- FWCI
- 5.53
- Type
- journal article
- Language
- en
- Open access
- bronze
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