Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: A series of 27 new cases
Author:
Funder
MBRS
HRS-MCJ
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference36 articles.
1. Assessing coping strategies in families with Jarcho-Levin Syndrome;Acevedo;Am J Human Gen,2002
2. Difficulties in the prenatal diagnosis of Jarcho-Levin syndrome;Apuzzio;Am J Obstet Gynecol,1987
3. Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling;Aymé;Am J Med Genet,1986
4. Spondylocostal dysostosis in South African sisters;Beighton;Clin Gen,1981
5. Mutations in the human delta homolgue, DLL3, cause axial skeletal defect in spondylocostal dysostosis;Bulman;Nat Genet,2000
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