Disease: Spondylocostal dysplasia dominant
- Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1
- Controversies surrounding Jarcho-Levin syndrome
- Jarcho-Levin syndrome. Description of a clinical case with familial 14;21 translocation
- Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia
- Monozygotic twins discordant for spondylocostal dysostosis
- Sleep-disordered breathing and its management in children with rare skeletal dysplasias
- Spondylo-costal dysostosis: presentation of a new case with autosomal dominant heredity and discussion of problems in genetic counseling
- Spondylocostal dysostosis
- Spondylocostal Dysostosis, Autosomal Recessive
- Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report
- Spondylocostal dysplasia and cardiac anomalies in one dizygotic twin
- Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism
- Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling
- Spondylothoracic dysplasia (Jarcho-Levin syndrome) in a Chinese baby