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Craniofrontonasal dysplasia: clinical and genetic analysis
Author(s) -
Sax Christina M.,
Flannery David B.
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb00552.x
Subject(s) - mendelian inheritance , genetics , locus (genetics) , biology , dysplasia , genetic analysis , gene
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.