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Craniofrontonasal dysplasia: clinical and genetic analysis
Clinical Genetics
|June 1, 1986
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.