Sax C M, Flannery D B
Clin Genet. 1986 Jun;29(6):508-15. doi: 10.1111/j.1399-0004.1986.tb00552.x.
We have identified a case of craniofrontonasal dysplasia which demonstrates the potential lethality of this gene. Genetic analysis of this pedigree and nine others reveals that craniofrontonasal dysplasia does not follow a Mendelian mode of inheritance and may be a human mutation analogous to the T-locus of mice.
