Craniofrontonasal dysplasia: clinical and genetic analysis
- 1 June 1986
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 29 (6) , 508-515
- https://doi.org/10.1111/j.1399-0004.1986.tb00552.x
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.Keywords
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