Reference
Gordon, Christopher T, et al. “De Novo Mutations in SMCHD1 Cause Bosma Arhinia Microphthalmia Syndrome and Abrogate Nasal Development”. Nature Genetics, vol. 49, no. 2, Dec. 2016, pp. 249–255, https://doi.org/10.1038/ng.3765.
PubMed Reference Number (PMID)
28067911