Premium
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis)
Author(s) -
Fried K.,
Manor A.,
Pajewski M.,
Starinsky R.,
Vure E.
Publication year - 1981
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.1399-0004.1981.tb00708.x
Subject(s) - penetrance , inheritance (genetic algorithm) , disease , medicine , hyperostosis , pathology , biology , genetics , anatomy , gene , phenotype
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis) is demonstrated in a study of a large kindred with nine affected individuals. This mode of transmission of the disease explains all previously reported families.