Craniofrontonasal dysplasia: clinical and genetic analysis.
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.
D000015:Abnormalities, Multiple / Q000150:complications / Q000235:genetics*; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D005260:Female; D005626:Frontal Sinus / Q000002:abnormalities*; D005804:Genes, Lethal; D006801:Humans; D009666:Nose / Q000002:abnormalities*; D010375:Pedigree; D011247:Pregnancy