Guidelines for genetic skeletal dysplasias for pediatricians
Author:
Affiliation:
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Publisher
Korean Society of Pediatric Endocrinology
Subject
Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
http://e-apem.org/upload/pdf/apem-20-187.pdf
Reference22 articles.
1. The birth prevalence rates for the skeletal dysplasias.
2. A Genetic Approach to the Diagnosis of Skeletal Dysplasia
3. International nomenclature and classification of the osteochondrodysplasias (1997)
4. Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy
5. Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes
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3. Overview of Skeletal Dysplasias;Turkish Journal of Pediatric Disease;2024-01-02
4. Growth plate extracellular matrix defects and short stature in children;Annals of Pediatric Endocrinology & Metabolism;2022-12-31
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