Nosology and classification of genetic skeletal disorders: 2019 revision
نویسندگان
چکیده
منابع مشابه
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
Genetic disorders involving the skeletal system arise through disturbances in the complex processes of skeletal development, growth and homeostasis and remain a diagnostic challenge because of their variety. The Nosology and Classification of Genetic Skeletal Disorders provides an overview of recognized diagnostic entities and groups them by clinical and radiographic features and molecular path...
متن کاملNosology and classification of genetic skeletal disorders: 2006 revision.
The objective of the paper is to provide the revision of the Nosology of Constitutional Disorders of Bone that incorporates newly recognized disorders and reflects new molecular and pathogenetic concepts. Criteria for inclusion of disorders were (1) significant skeletal involvement corresponding to the definition of skeletal dysplasias, metabolic bone disorders, dysostoses, and skeletal malform...
متن کاملNosology and classification of genetic skeletal disorders: 2015 revision.
The purpose of the nosology is to serve as a "master" list of the genetic disorders of the skeleton to facilitate diagnosis and to help delineate variant or newly recognized conditions. This is the 9th edition of the nosology and in comparison with its predecessor there are fewer conditions but many new genes. In previous editions, diagnoses that were phenotypically indistinguishable but geneti...
متن کاملInternational nosology and classification of constitutional disorders of bone (2001).
The last International Classification of Constitutional Disorders of Bone was published in 1998. Since then rapid advances have been made in identifying the molecular changes responsible for defined conditions and new disorders are constantly being delineated. For these reasons a further update on the classification is appropriate. It has been expended to not only the osteochondrodysplasias (33...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2019
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.61366