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Autosomal recessive inheritance of osteogenesis imperfecta
Author(s) -
Horan Frank,
Beighton Peter
Publication year - 1975
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.1399-0004.1975.tb04398.x
Subject(s) - osteogenesis imperfecta , autosomal recessive inheritance , inheritance (genetic algorithm) , genetics , biology , osteochondrodysplasia , medicine , gene , anatomy
Six individuals in two closely related families in Southern Africa had osteogenesis imperfecta (OI). Although OI is usually inherited as an autosomal dominant, the pattern of transmission in this kindred was consistent with autosomal recessive inheritance.