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Clin Genet. 1986 Jun;29(6):508-15.

Craniofrontonasal dysplasia: clinical and genetic analysis.

Abstract

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.

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