Etiology

 germline mutations in FAM20C (17924334)

See also

 osteosclerosis

References

 Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH. Mutations in FAM20C Are Associated with Lethal Osteosclerotic Bone Dysplasia (Raine Syndrome), Highlighting a Crucial Molecule in Bone Development. Am J Hum Genet. 2007 Nov;81(5):906-12. PMID: 17924334

 Hao, J.; Narayanan, K.; Muni, T.; Ramachandran, A.; George, A. : Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation. J. Biol. Chem. 282: 15357-15365, 2007. PubMed ID : 17369251

 Nalbant, D.; Youn, H.; Nalbant, S. I.; Sharma, S.; Cobos, E.; Beale, E. G.; Du, Y.; Williams, S. C. : FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. BMC Genomics 6: 11, 2005. PubMed ID : 15676076