PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Pediatric Endocrinology & Metabolism10.6065/apem.2015.20.4.1872015204187Guidelines for genetic skeletal dysplasias for pediatriciansSung Yoon Cho, Dong-Kyu Jinhttp://e-apem.org/upload/pdf/apem-20-187.pdf
Genetic Diagnosis of Endocrine Disorders10.1016/b978-0-12-800892-8.00012-92016173-189Genetic Diagnosis of Skeletal DysplasiasMurray J. Favushttps://api.elsevier.com/content/article/PII:B9780128008928000129?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:B9780128008928000129?httpAccept=text/plain
Bone Disorders10.1007/978-3-319-29182-6_642016363-365Genetic Disorders of Bone and Connective Tissue (Skeletal Dysplasias)Reiner Bartl, Christoph Bartlhttp://link.springer.com/content/pdf/10.1007/978-3-319-29182-6_64
Pathology10.1016/s0031-3025(16)33097-5201143S9Skeletal dysplasias in fetuses: perinatal presentations and the genetic approachRavi Savarirayanhttps://api.elsevier.com/content/article/PII:S0031302516330975?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:S0031302516330975?httpAccept=text/plain
Gamut Index of Skeletal Dysplasias10.1007/978-1-4471-0295-3_3200181-231Skeletal Dysplasia SyndromesKazimierz Kozlowski, Peter Beightonhttp://link.springer.com/content/pdf/10.1007/978-1-4471-0295-3_3
Gamut Index of Skeletal Dysplasias10.1007/978-1-4471-3320-9_3198479-178Skeletal Dysplasia SyndromesKazimierz Kozlowski, Peter Beightonhttp://link.springer.com/content/pdf/10.1007/978-1-4471-3320-9_3
Gamut Index of Skeletal Dysplasias10.1007/978-1-4471-3492-3_3199577-196Skeletal Dysplasia SyndromesKazimierz Kozlowski, Peter Beightonhttp://link.springer.com/content/pdf/10.1007/978-1-4471-3492-3_3
Acetabular Dysplasia10.1007/978-3-642-66737-4_91978157-182Constitutional Disorders of Skeletal Development: The Skeletal DysplasiasJ. Sprangerhttp://link.springer.com/content/pdf/10.1007/978-3-642-66737-4_9
Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias10.1016/b978-0-323-01931-6.50057-820071337-1350Teaching Approach to the Skeletal DysplasiasRalph S. Lachmanhttps://api.elsevier.com/content/article/PII:B9780323019316500578?httpAccept=text/xml, https://api.elsevier.com/content/article/PII:B9780323019316500578?httpAccept=text/plain
Clinical Genetics10.1034/j.1399-0004.2003.00046.x2003634241-251Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossificationB Newman, GA Wallishttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1399-0004.2003.00046.x, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1399-0004.2003.00046.x, http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2003.00046.x/fullpdf