Cole DE et al. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediatr. 1987;110(1):76-80. PMID: 3794889.

Garbes L et al. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta. Am J Hum Genet. 2015;96(3):432-9. PMID: 25683121.

Moosa S et al. Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. Clin Genet. 2016;89(4):517-9. PMID: 26467156.

Takeyari S et al. Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D. Am J Med Genet A. 2018;176(12):2882-6. PMID: 30462379.

Zhang H et al. Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta. Osteoporos Int. 2017;28(4):1473-80. PMID: 27942778.